{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T05:01:55Z","timestamp":1780722115488,"version":"3.54.1"},"reference-count":177,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2026,5,31]],"date-time":"2026-05-31T00:00:00Z","timestamp":1780185600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Next-generation sequencing (NGS) has transformed the diagnostic landscape for inherited metabolic diseases by enabling high-resolution detection of pathogenic variants across genetically heterogeneous lysosomal pathways. This is particularly impactful for lysosomal diseases (LDs), including the mucolipidoses (ML I\u2013IV), and for disorders involving lysosomal membranes, transporters, and lysosome-related organelles (LROs). These conditions often present with overlapping biochemical and clinical features that historically complicated accurate diagnosis. This review synthesizes current knowledge on the application of next-generation sequencing (NGS) technologies in the detection and interpretation of variants underlying mucolipidoses types I-IV and selected LRO and lysosomal membrane transport disorders. We summarize expanded variant catalogues, genotype\u2013phenotype correlations, and functional evidence informing pathogenicity classification. In addition, we discuss the integration of NGS into newborn screening and population-level genomics. Collectively, these advances have refined disease definitions, resolved diagnostically challenging cases, and reshaped clinical workflows across the LD and LRO disease spectra.<\/jats:p>","DOI":"10.3390\/genes17060643","type":"journal-article","created":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:58:38Z","timestamp":1780473518000},"page":"643","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Next-Generation Sequencing and Variant Cataloguing for Screening and Diagnosis of Mucolipidoses and Other Lysosome-Related Organelle Disorders, Including Lysosomal Membrane or Transport Disorders"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0795-4723","authenticated-orcid":false,"given":"Irina","family":"Vlasova-St. Louis","sequence":"first","affiliation":[{"name":"Vinnana AI LLC, Sheridan, WY 82601, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Khaiboullina","sequence":"additional","affiliation":[{"name":"Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan 420008, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,5,31]]},"reference":[{"key":"ref_1","unstructured":"Amarin, Z. (2025). Introductory Chapter: Advances in Prenatal and Neonatal Diagnostics. Selected Topics in Prenatal and Neonatal Diagnoses, IntechOpen."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"e2410754","DOI":"10.1001\/jamanetworkopen.2024.10754","article-title":"Newborn Screening for 6 Lysosomal Storage Disorders in China","volume":"7","author":"Chang","year":"2024","journal-title":"JAMA Netw. Open"},{"key":"ref_3","unstructured":"Amarin, Z. (2025). Perspective Chapter: Next-Generation Sequencing and Variant Cataloging for Screening and Diagnosis of Sphingolipidoses and Mucopolysaccharidoses. Selected Topics in Prenatal and Neonatal Diagnoses, IntechOpen."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ped4.12343","article-title":"Newborn screening for genetic disorders: Current status and prospects for the future","volume":"6","author":"Ding","year":"2022","journal-title":"Pediatr. Investig."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"La Cognata, V., and Cavallaro, S. (2021). A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases. Genes, 12.","DOI":"10.3390\/genes12111750"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1038\/s41525-021-00173-0","article-title":"Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh","volume":"6","author":"Akter","year":"2021","journal-title":"npj Genom. Med."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/j.chest.2025.01.022","article-title":"Hermansky-Pudlak Syndrome in the United States","volume":"168","author":"Engel","year":"2025","journal-title":"Chest"},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Sakai, E., Yamada, T., Hamazaki, T., Tajima, G., and Seto, T. (2025). A Nationwide Survey Investigating the Current Status of Genetic Counseling in Newborn Screening in Japan. Int. J. Neonatal Screen., 11.","DOI":"10.20944\/preprints202509.1040.v1"},{"key":"ref_9","doi-asserted-by":"crossref","unstructured":"La Cognata, V., and Cavallaro, S. (2022). Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases. Biomedicines, 10.","DOI":"10.3390\/biomedicines10081836"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/s41572-018-0025-4","article-title":"Lysosomal storage diseases","volume":"4","author":"Platt","year":"2018","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1146\/annurev-physiol-021014-071649","article-title":"Lysosomal Physiology","volume":"77","author":"Xu","year":"2015","journal-title":"Annu. Rev. Physiol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"S89","DOI":"10.1684\/epd.2016.0845","article-title":"Sialidoses","volume":"18","author":"Franceschetti","year":"2016","journal-title":"Epileptic Disord."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1055\/s-0039-1697605","article-title":"Clinical Characterization of Mucolipidoses II and III: A Multicenter Study","volume":"8","author":"Alegra","year":"2019","journal-title":"J. Pediatr. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Jezela-Stanek, A., Ciara, E., and Stepien, K.M. (2020). Neuropathophysiology, Genetic Profile, and Clinical Manifestation of Mucolipidosis IV\u2014A Review and Case Series. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21124564"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"2047","DOI":"10.1038\/s41436-021-01244-4","article-title":"Mucolipidosis type II and type III: A systematic review of 843 published cases","volume":"23","author":"Dogterom","year":"2021","journal-title":"Genet. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1007\/s00018-013-1538-3","article-title":"Lysosomal multienzyme complex: Pros and cons of working together","volume":"71","author":"Bonten","year":"2014","journal-title":"Cell. Mol. Life Sci."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"115204","DOI":"10.1016\/j.celrep.2024.115204","article-title":"Neuraminidase 1 regulates neuropathogenesis by governing the cellular state of microglia via modulation of Trem2 sialylation","volume":"44","author":"Fremuth","year":"2025","journal-title":"Cell Rep."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"623","DOI":"10.12998\/wjcc.v9.i3.623","article-title":"Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature","volume":"9","author":"Cao","year":"2021","journal-title":"World J. Clin. Cases"},{"key":"ref_20","first-page":"11","article-title":"Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement","volume":"15","author":"Mohammad","year":"2018","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_21","first-page":"100561","article-title":"Sialidosis type II: Expansion of phenotypic spectrum and identification of a common mutation in seven patients","volume":"22","author":"Arora","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.ymgme.2019.09.005","article-title":"Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview","volume":"129","author":"Caciotti","year":"2020","journal-title":"Mol. Genet. Metab."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"282","DOI":"10.14802\/jmd.23145","article-title":"Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1","volume":"17","author":"Li","year":"2024","journal-title":"J. Mov. Disord."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1186\/s13023-024-03378-5","article-title":"Genotype-phenotype correlation and founder effect analysis in southeast Chinese patients with sialidosis type I","volume":"19","author":"Du","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_25","first-page":"1","article-title":"Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings","volume":"10","author":"Hoffmann","year":"2017","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1515\/jpem-2024-0468","article-title":"Sialidosis type 1 in a Turkish family: A case report and review of literatures","volume":"38","author":"Sezer","year":"2025","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1212\/WNL.0000000000207715","article-title":"Novel Pathogenic Variant in the NEU1 Gene in a Patient with Sialidosis with Progressive Myoclonus Ataxia with Cherry-Red Spot","volume":"101","author":"Sahoo","year":"2023","journal-title":"Neurology"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"65","DOI":"10.14802\/jmd.20083","article-title":"Sialidosis Type I without a Cherry Red Spot\u2014Is There a Genetic Basis?","volume":"14","author":"Neeraja","year":"2021","journal-title":"J. Mov. Disord."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"e1316","DOI":"10.1002\/mgg3.1316","article-title":"Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1","volume":"8","author":"Han","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_30","first-page":"e20389","article-title":"A Case of Type 2 Sialidosis with Deletion of a Single Nucleotide at Position c.947 of the Neuraminidase 1 (NEU1) Gene","volume":"13","author":"Hassan","year":"2021","journal-title":"Cureus"},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Peng, M., Chau, S., Chien, J., Woon, P., Chen, Y., Cheang, W., Tsai, H., and Huang, S. (2025). Genetic Insights and Clinical Implications of NEU1 Mutations in Sialidosis. Genes, 16.","DOI":"10.3390\/genes16020151"},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Khan, S.A., and Tomatsu, S.C. (2020). Mucolipidoses Overview: Past, Present, and Future. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21186812"},{"key":"ref_33","doi-asserted-by":"crossref","unstructured":"Monteagudo-Vilavedra, E., Rodrigues, D., Vella, G., Bravo, S.B., Pena, C., Lopez-Valverde, L., Colon, C., Sanchez-Pintos, P., Otero Espinar, F.J., and Couce, M.L. (2025). Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II. Int. J. Mol. Sci., 26.","DOI":"10.3390\/ijms26062408"},{"key":"ref_34","doi-asserted-by":"crossref","unstructured":"Ammer, L.S., T\u00e4uber, K., Perez, A., Dohrmann, T., Denecke, J., Santer, R., Bl\u00fcmlein, U., Ozga, A., Pohl, S., and Muschol, N.M. (2023). CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients. J. Clin. Med., 12.","DOI":"10.3390\/jcm12124114"},{"key":"ref_35","first-page":"842","article-title":"The lysosomal storage disorders mucolipidosis type II, type III alpha\/beta, and type III gamma: Update on GNPTAB and GNPTG mutations","volume":"40","author":"Velho","year":"2019","journal-title":"Hum. Mutat."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/humu.20205","article-title":"Identification of mutations in the GNPTA (MGC4170) gene coding for GlcNAc-phosphotransferase \u03b1\/\u03b2 subunits in Korean patients with mucolipidosis type II or type IIIA","volume":"26","author":"Paik","year":"2005","journal-title":"Hum. Mutat."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"He, S., Li, D., Lv, W., Tang, W., Sun, S., Zhu, Y., Liu, Y., Wu, J., and Lu, X. (2023). Outcomes after HSCT for mucolipidosis II (I-cell disease) caused by novel compound heterozygous GNPTAB mutations. Front. Pediatr., 11.","DOI":"10.3389\/fped.2023.1199489"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1186\/s43141-021-00204-4","article-title":"Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene","volume":"19","author":"Essawi","year":"2021","journal-title":"J. Genet. Eng. Biotechnol."},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Feng, Y., Huang, Y., Zhao, X., Sheng, H., Su, X., Yin, X., Li, L., and Zhang, W. (2024). Clinical and molecular characteristics of 20 Chinese probands with Mucolipidosis type II and III alpha\/beta. BMC Pediatr., 24.","DOI":"10.1186\/s12887-024-05223-x"},{"key":"ref_40","doi-asserted-by":"crossref","unstructured":"Mao, S., Zu, Y., Dai, Y., and Zou, C. (2022). Case Report: Mucolipidosis II and III Alpha\/Beta Caused by Pathogenic Variants in the GNPTAB Gene (Mucolipidosis). Front. Pediatr., 10.","DOI":"10.3389\/fped.2022.852701"},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Liu, S., Zhang, W., Shi, H., Yao, F., Wei, M., and Qiu, Z. (2016). Mutation Analysis of 16 Mucolipidosis II and III Alpha\/Beta Chinese Children Revealed Genotype-Phenotype Correlations. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0163204"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1515\/jpem-2025-0352","article-title":"Mucolipidosis type II and III: Clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations","volume":"38","author":"Erdem","year":"2025","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Ammer, L.S., Oussoren, E., Muschol, N.M., Pohl, S., Rubio-Gozalbo, M., Santer, R., Stuecker, R., Vettorazzi, E., and Breyer, S.R. (2020). Hip Morphology in Mucolipidosis Type II. J. Clin. Med., 9.","DOI":"10.3390\/jcm9030728"},{"key":"ref_44","first-page":"100688","article-title":"Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives","volume":"25","author":"Tan","year":"2020","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Moutinho, M.E., Gon\u00e7alves, M., Duarte, A.J., Encarna\u00e7\u00e3o, M., Coutinho, M.F., Matos, L., Santos, J.I., Ribeiro, D., Amaral, O., and Gaspar, P. (2025). Establishment of a Human iPSC Line from Mucolipidosis Type II That Expresses the Key Markers of the Disease. Int. J. Mol. Sci., 26.","DOI":"10.3390\/ijms26083871"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"594","DOI":"10.1038\/ejhg.2013.207","article-title":"A novel intermediate mucolipidosis II\/III\u03b1\u03b2 caused by GNPTAB mutation in the cytosolic N-terminal domain","volume":"22","author":"Leroy","year":"2013","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"647","DOI":"10.1515\/jpem-2019-0426","article-title":"Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family","volume":"33","author":"Khan","year":"2020","journal-title":"J. Pediatr. Endocrinol. Metab."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1321","DOI":"10.1002\/humu.24019","article-title":"Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention","volume":"41","author":"Lee","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1080\/15513815.2025.2466057","article-title":"Two GNPTAB Variations Caused Mucolipidosis II Alpha\/Beta in a Chinese Family","volume":"44","author":"Yang","year":"2025","journal-title":"Fetal Pediatr. Pathol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.biocel.2017.09.006","article-title":"GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms","volume":"92","author":"Ludwig","year":"2017","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1055\/s-0039-1700519","article-title":"Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome","volume":"9","author":"Speer","year":"2020","journal-title":"J. Pediatr. Genet."},{"key":"ref_52","first-page":"101246","article-title":"Hand stiffness not only a rheumatological sign: A case of early onset mucolipidosis III-gamma with literature review","volume":"44","author":"Pepe","year":"2025","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"2369","DOI":"10.1038\/s41436-021-01285-9","article-title":"Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III","volume":"23","author":"Westermann","year":"2021","journal-title":"Genet. Med."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1086\/500849","article-title":"Mucolipidosis II (I-Cell Disease) and Mucolipidosis IIIA (Classical Pseudo-Hurler Polydystrophy) Are Caused by Mutations in the GlcNAc-Phosphotransferase \u03b1\/\u03b2\u2013Subunits Precursor Gene","volume":"78","author":"Kudo","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_55","first-page":"100978","article-title":"Multiplex tandem mass spectrometry enzymatic activity assay for the screening and diagnosis of Mucolipidosis type II and III","volume":"35","author":"Hong","year":"2023","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1111\/tra.12249","article-title":"Mucolipidosis Type IV Protein TRPML1-Dependent Lysosome Formation","volume":"16","author":"Miller","year":"2015","journal-title":"Traffic"},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Wahl-Schott, C., Freichel, M., Hennis, K., Philippaert, K., Ottenheijm, R., Tsvilovskyy, V., Varbanov, H., Wahl-Schott, C., and Biel, M. (2023). Characterization of Endo-Lysosomal Cation Channels Using Calcium Imaging, Springer International Publishing.","DOI":"10.1007\/164_2023_637"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1111\/jnc.14462","article-title":"Current concepts in the neuropathogenesis of mucolipidosis type IV","volume":"148","author":"Boudewyn","year":"2019","journal-title":"J. Neurochem."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1002\/humu.1115","article-title":"Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population","volume":"17","author":"Bargal","year":"2001","journal-title":"Hum. Mutat."},{"key":"ref_60","doi-asserted-by":"crossref","unstructured":"Al-Alawi, B., Harikrishna, B., Al-Thihli, K., Al Zuhabi, S., Ganesh, A., Al Hashami, Z., Al Dhamhmani, Z., Zadjali, R., Al Riyami, N.B., and Zadjali, F. (2022). Mucolipidosis Type IV in Omani Families with a Novel MCOLN1 Mutation: Search for Evidence of Founder Effect. Genes, 13.","DOI":"10.3390\/genes13020248"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"e992","DOI":"10.1002\/mgg3.992","article-title":"Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephaly","volume":"8","author":"Meloche","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Mohsenipour, M., Nejati, P., Khosravi, T., Alimoradi, E., Salehi, M., Oladnabi, M., and Alibakhshi, R. (2025). A novel Bi-Allelic pathogenic MCOLN1 variant underlying mucolipidosis type IV in an Iranian family: Clinical, genetic, and molecular dynamics-based structural analysis. BMC Med. Genom., 18.","DOI":"10.1186\/s12920-025-02271-9"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1017\/cjn.2024.47","article-title":"A Novel Homozygous Variant in the MCOLN1 Gene Associated with Severe Oromandibular Dystonia and Parkinsonism","volume":"52","author":"Ghasemi","year":"2025","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.ajo.2023.10.011","article-title":"Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1","volume":"258","author":"Patterson","year":"2024","journal-title":"Am. J. Ophthalmol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"101345","DOI":"10.1016\/j.omtm.2024.101345","article-title":"Toward a translational gene therapy for mucolipidosis IV","volume":"32","author":"Snyder","year":"2024","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"e662","DOI":"10.1212\/NXG.0000000000000662","article-title":"Cross-sectional Observations on the Natural History of Mucolipidosis Type IV","volume":"8","author":"Misko","year":"2022","journal-title":"Neurol. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","unstructured":"Barral, D.C., Delevoye, C., Larue, L., Seabra, M.C., Raposo, G., and Setty, S.R.G. (2026). Insights into lysosome-related organelle biogenesis: Melanosome as a model organelle. Front. Cell Dev. Biol., 13.","DOI":"10.3389\/fcell.2025.1758081"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1083\/jcb.202102001","article-title":"Lysosome biogenesis: Regulation and functions","volume":"220","author":"Yang","year":"2021","journal-title":"J. Cell Biol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"S38","DOI":"10.1016\/j.ymgme.2017.12.079","article-title":"Fast genetic diagnosis of lysosomal disorders by means of a novel NGS-based resequencing gene panel","volume":"123","author":"Morado","year":"2018","journal-title":"Mol. Genet. Metab."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1016\/j.molmed.2021.04.004","article-title":"Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis","volume":"27","author":"Jamalpoor","year":"2021","journal-title":"Trends Mol. Med."},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Hohenfellner, K., Elenberg, E., Ariceta, G., Nesterova, G., Soliman, N.A., and Topaloglu, R. (2022). Newborn Screening: Review of its Impact for Cystinosis. Cells, 11.","DOI":"10.3390\/cells11071109"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1038\/s41431-019-0521-3","article-title":"Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis","volume":"28","author":"Fleige","year":"2020","journal-title":"Eur. J. Hum. Genet. EJHG"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s00467-022-05525-1","article-title":"Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis","volume":"38","author":"Trabelsi","year":"2023","journal-title":"Pediatr. Nephrol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1007\/s44162-024-00046-x","article-title":"Unveiling cystinosis in India","volume":"3","author":"Heroor","year":"2024","journal-title":"J. Rare Dis."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"S358","DOI":"10.1016\/j.ekir.2024.11.668","article-title":"WCN25-2709 Mutational Spectrum of CTNS Gene in Indian Children with Nephropathic Cystinosis","volume":"10","author":"Dev","year":"2025","journal-title":"Kidney Int. Rep."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"1871","DOI":"10.1002\/ccr3.1678","article-title":"Atypical onset of nephropathic infantile cystinosis in a Russian patient with rare CTNS mutation","volume":"6","author":"Anastasiya","year":"2018","journal-title":"Clin. Case Rep."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1186\/s13256-022-03379-7","article-title":"Cystinosis and two rare mutations in CTNS gene: Two case reports","volume":"16","author":"Sarlaki","year":"2022","journal-title":"J. Med. Case Rep."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"2262","DOI":"10.4103\/0366-6999.240812","article-title":"Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder","volume":"131","author":"Lee","year":"2018","journal-title":"Chin. Med. J."},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"Najafi, M., Tamandani, D.M.K., Azarfar, A., Bakey, Z., Behjati, F., Antony, D., Sch\u00fcle, I., Sadeghi-Bojd, S., Karimiani, E.G., and Schmidts, M. (2019). A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East. Front. Pediatr., 7.","DOI":"10.3389\/fped.2019.00089"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1056\/NEJMoa2506431","article-title":"Hematopoietic Stem-Cell Gene Therapy for Cystinosis","volume":"394","author":"Barshop","year":"2026","journal-title":"N. Engl. J. Med."},{"key":"ref_81","doi-asserted-by":"crossref","unstructured":"Adda Neggaz, L., Dahmani, A.C., Derriche, I., Adda Neggaz, N., and Boudjema, A. (2025). Computational prediction of deleterious nonsynonymous SNPs in the CTNS gene: Implications for cystinosis. BMC Genom. Data, 26.","DOI":"10.1186\/s12863-025-01325-2"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"104995","DOI":"10.1016\/j.yexmp.2025.104995","article-title":"Therapeutic strategies in cystinosis: A focus on cysteamine and beyond","volume":"144","author":"Santoro","year":"2025","journal-title":"Exp. Mol. Pathol."},{"key":"ref_83","doi-asserted-by":"crossref","unstructured":"Ouhenach, M., Zrhidri, A., Jaouad, I.C., Smaili, W., and Sefiani, A. (2020). Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis. BMC Med. Genet., 21.","DOI":"10.1186\/s12881-020-01167-y"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"3074","DOI":"10.1038\/s41467-025-58340-1","article-title":"Cryo-TEM structure of \u03b2-glucocerebrosidase in complex with its transporter LIMP-2","volume":"16","author":"Dobert","year":"2025","journal-title":"Nat. Commun."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1083\/jcb.201602090","article-title":"The lysosomal membrane protein SCAV-3 maintains lysosome integrity and adult longevity","volume":"215","author":"Li","year":"2016","journal-title":"J. Cell Biol."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"e614","DOI":"10.1212\/NXG.0000000000000614","article-title":"Miglustat Therapy for SCARB2-Associated Action Myoclonus\u2013Renal Failure Syndrome","volume":"7","author":"Quraishi","year":"2021","journal-title":"Neurol. Genet."},{"key":"ref_87","doi-asserted-by":"crossref","unstructured":"Atasu, B., Acarl\u0131, A.N.O., Bilgic, B., Baykan, B., Demir, E., Ozluk, Y., Turkmen, A., Hauser, A., Guven, G., and Hanagasi, H. (2022). Genotype\u2013Phenotype correlations of SCARB2 associated clinical presentation: A case report and in-depth literature review. BMC Neurol., 22.","DOI":"10.1186\/s12883-022-02628-y"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.4103\/0366-6999.235113","article-title":"Identification of a Novel Homozygous Splice-Site Mutation in SCARB2 that Causes Progressive Myoclonus Epilepsy with or without Renal Failure","volume":"131","author":"He","year":"2018","journal-title":"Chin. Med. J."},{"key":"ref_89","doi-asserted-by":"crossref","unstructured":"Hotait, M., Dirani, M., El Halabi, T., and Beydoun, A. (2020). Case Report: Distinctive EEG Patterns in SCARB-2 Related Progressive Myoclonus Epilepsy. Front. Genet., 11.","DOI":"10.3389\/fgene.2020.581253"},{"key":"ref_90","first-page":"e41261","article-title":"Action Myoclonus-Renal Failure Syndrome: Case Report with Bioinformatic Annotations","volume":"15","author":"Ekmekci","year":"2023","journal-title":"Cureus"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1186\/s40478-020-00935-4","article-title":"Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson\u2019s disease pathogenesis","volume":"8","author":"Smolders","year":"2020","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13041-020-00712-3","article-title":"Fibroblasts from idiopathic Parkinson\u2019s disease exhibit deficiency of lysosomal glucocerebrosidase activity associated with reduced levels of the trafficking receptor LIMP2","volume":"14","author":"Thomas","year":"2021","journal-title":"Mol. Brain"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"135896","DOI":"10.1016\/j.neulet.2021.135896","article-title":"Free sialic acid storage disorder: Progress and promise","volume":"755","author":"Huizing","year":"2021","journal-title":"Neurosci. Lett."},{"key":"ref_94","first-page":"101284","article-title":"A novel SLC17A5 variant in infantile sialic acid storage disease with hyporegenerative anemia: Neuroimaging insights and literature review","volume":"45","author":"Cappozzo","year":"2025","journal-title":"Mol. Genet. Metab. Rep."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1186\/s13023-017-0584-6","article-title":"Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease","volume":"12","author":"Wasserman","year":"2017","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_96","first-page":"e70029","article-title":"Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder","volume":"66","author":"Sabir","year":"2025","journal-title":"JIMD Rep."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"e70025","DOI":"10.1002\/iub.70025","article-title":"Hermansky-Pudlak Syndrome: From Molecular Pathogenesis to Targeted Therapies","volume":"77","author":"Tondi","year":"2025","journal-title":"IUBMB Life"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"1431","DOI":"10.1038\/s41385-022-00572-1","article-title":"Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism","volume":"15","author":"Cavounidis","year":"2022","journal-title":"Mucosal Immunol."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"345","DOI":"10.4103\/lungindia.lungindia_258_18","article-title":"Hermansky-Pudlak syndrome with interstitial lung disease: A holistically worked up couplet","volume":"36","author":"Gupta","year":"2019","journal-title":"Lung India"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"17534666251374241","DOI":"10.1177\/17534666251374241","article-title":"Clinical characteristics and prognostic factors of Hermansky-Pudlak syndrome with or without pulmonary fibrosis: A systematic review","volume":"19","author":"Du","year":"2025","journal-title":"Ther. Adv. Respir. Dis."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1111\/pcmr.12748","article-title":"Instability of BLOC-2 and BLOC-3 in Chinese patients with Hermansky-Pudlak syndrome","volume":"32","author":"Wei","year":"2019","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1016\/j.chembiol.2025.08.001","article-title":"BLOC-1 and BORC: Complex regulators of endolysosomal dynamics","volume":"32","author":"Ghosh","year":"2025","journal-title":"Cell Chem. Biol."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"2967","DOI":"10.1038\/s41467-025-58235-1","article-title":"Cryo-EM structure of the BLOC-3 complex provides insights into the pathogenesis of Hermansky-Pudlak syndrome","volume":"16","author":"Yong","year":"2025","journal-title":"Nat. Commun."},{"key":"ref_104","doi-asserted-by":"crossref","unstructured":"Lu, J., Ma, J., Hao, Z., and Li, W. (2022). HPS6 Regulates the Biogenesis of Weibel\u2013Palade Body in Endothelial Cells Through Trafficking v-ATPase to Its Limiting Membrane. Front. Cell Dev. Biol., 9.","DOI":"10.3389\/fcell.2021.743124"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"1804","DOI":"10.1182\/blood.2020007389","article-title":"A zinc transporter, transmembrane protein 163, is critical for the biogenesis of platelet dense granules","volume":"137","author":"Yuan","year":"2021","journal-title":"Blood"},{"key":"ref_106","first-page":"25","article-title":"Impairment of Renal Function in Hermansky-Pudlak Syndrome","volume":"56","author":"Yokoyama","year":"2025","journal-title":"Am. J. Nephrol."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1165\/rcmb.2025-0410ED","article-title":"Hermansky-Pudlak Syndrome Pulmonary Fibrosis: Monogenic Disorder, Multi-Omics Discovery","volume":"74","author":"Ghincea","year":"2026","journal-title":"Am. J. Respir. Cell Mol. Biol."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1002\/humu.23968","article-title":"Hermansky\u2013Pudlak syndrome: Mutation update","volume":"41","author":"Huizing","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"104228","DOI":"10.1016\/j.ejmg.2021.104228","article-title":"Hermansky\u2013Pudlak syndrome: Five Chinese patients with novel variants in HPS1 and HPS6","volume":"64","author":"Wang","year":"2021","journal-title":"Eur. J. Med. Genet."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"a006110","DOI":"10.1101\/mcs.a006110","article-title":"A novel likely pathogenic variant in a patient with Hermansky-Pudlak syndrome","volume":"7","author":"Lansdon","year":"2021","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Shakil, M., Akbar, A., Aisha, N.M., Hussain, I., Ullah, M.I., Atif, M., Kaul, H., Amar, A., Latif, M.Z., and Qureshi, M.A. (2022). Delineating Novel and Known Pathogenic Variants in TYR, OCA2 and HPS-1 Genes in Eight Oculocutaneous Albinism (OCA) Pakistani Families. Genes, 13.","DOI":"10.3390\/genes13030503"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/s13023-019-1023-7","article-title":"Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising","volume":"14","author":"Power","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1186\/s43042-025-00761-0","article-title":"Homozygous HPS1 variant in an Iranian sibling pair with Hermansky\u2013Pudlak syndrome","volume":"26","author":"Bahadoran","year":"2025","journal-title":"Egypt. J. Med. Hum. Genet."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1111\/pcmr.12688","article-title":"Molecular characterization of a series of 990 index patients with albinism","volume":"31","author":"Lasseaux","year":"2018","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_115","doi-asserted-by":"crossref","unstructured":"Doubkov\u00e1, M., Trizuljak, J., Vrzalov\u00e1, Z., Hrazdirov\u00e1, A., Blah\u00e1kov\u00e1, I., Radov\u00e1, L., Posp\u00ed\u0161ilov\u00e1, \u0160., and Doubek, M. (2019). Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: A case report. BMC Pulm. Med., 19.","DOI":"10.1186\/s12890-019-0941-4"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"848","DOI":"10.1111\/pcmr.12800","article-title":"NGS-based targeted resequencing identified rare subtypes of albinism: Providing accurate molecular diagnosis for Japanese patients with albinism","volume":"32","author":"Okamura","year":"2019","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_117","doi-asserted-by":"crossref","unstructured":"Bobreshova, A.M., Ionova, S.A., Kadyshev, V.V., Sukhanova, N.V., Viakhireva, I.V., Filatova, A.Y., Zhurkova, N.V., Sparber, P.A., Marakhonov, A.V., and Vasilyeva, T.A. (2024). Masks of Albinism: Clinical Spectrum of Hermansky\u2013Pudlak Syndrome. Int. J. Mol. Sci., 25.","DOI":"10.3390\/ijms252011260"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1186\/s13023-025-03758-5","article-title":"Age-related neutrophil activation in Hermansky-Pudlak Syndrome Type-1","volume":"20","year":"2025","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"e2493","DOI":"10.1002\/mgg3.2493","article-title":"After an initial Hermansky\u2013Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report","volume":"12","author":"Renta","year":"2024","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"e13748","DOI":"10.1111\/pai.13748","article-title":"Novel AP3B1 mutations in a Hermansky\u2013Pudlak syndrome type2 with neonatal interstitial lung disease","volume":"33","author":"Matsuyuki","year":"2022","journal-title":"Pediatr. Allergy Immunol."},{"key":"ref_121","doi-asserted-by":"crossref","unstructured":"Chen, J., Yang, Y., Liu, B., Xie, X., and Li, W. (2022). Hermansky-Pudlak syndrome type 2: A rare cause of severe periodontitis in adolescents\u2014A case study. Front. Pediatr., 10.","DOI":"10.3389\/fped.2022.914243"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"102444","DOI":"10.1016\/j.scr.2021.102444","article-title":"Generation and characterization of a control and patient-derived human iPSC line containing the Hermansky Pudlak type 2 (HPS2) associated heterozygous compound mutation in AP3B1","volume":"54","author":"Aarts","year":"2021","journal-title":"Stem Cell Res."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"e389","DOI":"10.1097\/MPH.0000000000002552","article-title":"Hermansky-Pudlak Syndrome: Spectrum in Oman","volume":"45","author":"Nazir","year":"2023","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1182\/blood-2005-11-4377","article-title":"Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2","volume":"108","author":"Jung","year":"2006","journal-title":"Blood"},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"333","DOI":"10.3324\/haematol.2009.012286","article-title":"Two patients with Hermansky Pudlak syndrome type 2 and novel mutations in AP3B1","volume":"95","author":"Wenham","year":"2010","journal-title":"Haematologica"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"1312","DOI":"10.1038\/s41431-021-00886-x","article-title":"Germline variants in UNC13D and AP3B1 are enriched in COVID-19 patients experiencing severe cytokine storms","volume":"29","author":"Luo","year":"2021","journal-title":"Eur. J. Hum. Genet. EJHG"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1007\/s12185-015-1807-z","article-title":"Synergistic defects of UNC13D and AP3B1 leading to adult hemophagocytic lymphohistiocytosis","volume":"102","author":"Gao","year":"2015","journal-title":"Int. J. Hematol."},{"key":"ref_128","doi-asserted-by":"crossref","unstructured":"Yin, G., Lu, Y., Pan, H., Deng, B., Wu, S., Peng, Z., and Ye, X. (2022). Hemophagocytic Lymphohistiocytosis Associated with Synergistic Defects of AP3B1 and ATM Genes: A Case Report and Literature Review. J. Clin. Med., 12.","DOI":"10.3390\/jcm12010095"},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s11033-025-11142-6","article-title":"A novel HPS3 pathogenic nonsense variant associated with Hermansky-Pudlak syndrome type 3 and a platelet dysfunction","volume":"53","author":"Chouman","year":"2026","journal-title":"Mol. Biol. Rep."},{"key":"ref_130","doi-asserted-by":"crossref","unstructured":"Mai, J., Zhang, Z., Xu, B., Liu, S., Wang, H., Wang, H., and Yang, S. (2025). Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3. Front. Genet., 16.","DOI":"10.3389\/fgene.2025.1465527"},{"key":"ref_131","doi-asserted-by":"crossref","unstructured":"Zaman, Q., Anas, M., Rehman, G., Khan, Q., Iftikhar, A., Ahmad, M., Owais, M., Ahmad, I., and Muthaffar, O. (2023). Report of Hermansky\u2013Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes. Genes, 14.","DOI":"10.3390\/genes14010145"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1080\/09537104.2019.1704716","article-title":"Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3","volume":"31","author":"Lecchi","year":"2020","journal-title":"Platelets"},{"key":"ref_133","doi-asserted-by":"crossref","unstructured":"Chen, C., Wang, R., Yuan, Y., Li, J., and Yu, X. (2022). Clinical Features and Novel Genetic Variants Associated with Hermansky-Pudlak Syndrome. Genes, 13.","DOI":"10.3390\/genes13071283"},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"141","DOI":"10.1080\/07853890.2019.1587498","article-title":"Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing","volume":"51","author":"Bastida","year":"2019","journal-title":"Ann. Med."},{"key":"ref_135","doi-asserted-by":"crossref","unstructured":"Marek-Yagel, D., Abudi-Sinreich, S., Macarov, M., Veber, A., Shalva, N., Philosoph, A.M., Pode-Shakked, B., Malicdan, M.C.V., and Anikster, Y. (2022). Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene. Front. Genet., 13.","DOI":"10.3389\/fgene.2022.936064"},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"4535349","DOI":"10.1155\/2021\/4535349","article-title":"Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome","volume":"2021","author":"Wang","year":"2021","journal-title":"BioMed Res. Int."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"1147","DOI":"10.1182\/blood-2018-99-112968","article-title":"Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications","volume":"132","author":"Bastida","year":"2018","journal-title":"Blood"},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"119813","DOI":"10.1016\/j.cca.2024.119813","article-title":"Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population","volume":"561","author":"Hu","year":"2024","journal-title":"Clin. Chim. Acta"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s00439-003-0933-5","article-title":"Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics","volume":"113","author":"Anderson","year":"2003","journal-title":"Hum. Genet."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"17534666251383677","DOI":"10.1177\/17534666251383677","article-title":"A novel homozygous HPS4 mutation in Hermansky\u2013Pudlak syndrome: Case report and literature review","volume":"19","author":"Liu","year":"2025","journal-title":"Ther. Adv. Respir. Dis."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"e16899","DOI":"10.1097\/MD.0000000000016899","article-title":"A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China","volume":"98","author":"Wu","year":"2019","journal-title":"Medicine"},{"key":"ref_142","doi-asserted-by":"crossref","unstructured":"He, K., and Nie, Z. (2023). System analysis based on the lysosome-related genes identifies HPS4 as a novel therapy target for liver hepatocellular carcinoma. Front. Oncol., 13.","DOI":"10.3389\/fonc.2023.1221498"},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1111\/pcmr.12608","article-title":"Clinico-molecular analysis of eleven patients with Hermansky\u2013Pudlak type 5 syndrome, a mild form of HPS","volume":"30","author":"Michaud","year":"2017","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_144","doi-asserted-by":"crossref","unstructured":"Boeckelmann, D., Wolter, M., Neubauer, K., Sobotta, F., Lenz, A., Glonnegger, H., K\u00e4smann-Kellner, B., Mann, J., Ehl, S., and Zieger, B. (2022). Hermansky-Pudlak Syndrome: Identification of Novel Variants in the Genes HPS3, HPS5, and DTNBP1 (HPS-7). Front. Pharmacol., 12.","DOI":"10.3389\/fphar.2021.786937"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1080\/09537104.2017.1361019","article-title":"Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype","volume":"29","author":"Botero","year":"2018","journal-title":"Platelets"},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1002\/humu.23626","article-title":"Recommendations for interpreting the loss of function PVS1 ACMG\/AMP variant criterion","volume":"39","author":"Pesaran","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1159\/000535788","article-title":"Novel Variants of HPS6 Cause Suspected Ocular Albinism: A Report of 2 Cases and the Profile of HPS6 Variants","volume":"67","author":"Zhou","year":"2024","journal-title":"Ophthalmic Res."},{"key":"ref_148","first-page":"e47970","article-title":"Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease","volume":"15","author":"Alhozali","year":"2023","journal-title":"Cur\u0113us"},{"key":"ref_149","doi-asserted-by":"crossref","unstructured":"Karim, S., Saharti, S., Alganmi, N., Mirza, Z., Alfares, A., Turkistany, S., Al-Attas, M., Noureldin, H., Al Sakkaf, K., and Abusamra, H. (2021). Two Novel Homozygous HPS6 Mutations (Double Mutant) Identified by Whole-Exome Sequencing in a Saudi Consanguineous Family Suspected for Oculocutaneous Albinism. Life, 12.","DOI":"10.3390\/life12010014"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"2819","DOI":"10.1002\/ajmg.a.40514","article-title":"Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant","volume":"176","author":"Han","year":"2018","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.ymgme.2016.08.009","article-title":"Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism","volume":"119","author":"Lozier","year":"2016","journal-title":"Mol. Genet. Metab."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1080\/13816810.2023.2291670","article-title":"Unraveling Hermansky\u2013Pudlak syndrome type 7: A case report and comprehensive literature review on the identification of DTNBP1 variants","volume":"45","author":"Rodrigues","year":"2024","journal-title":"Ophthalmic Genet."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1016\/j.ymgme.2017.02.007","article-title":"Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS","volume":"120","author":"Bryan","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1086\/499338","article-title":"A Germline Mutation in BLOC1S3\/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)","volume":"78","author":"Morgan","year":"2006","journal-title":"Am. J. Hum. Genet."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1111\/pcmr.12915","article-title":"Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky\u2013Pudlak syndrome","volume":"34","author":"Pennamen","year":"2021","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1111\/1346-8138.15762","article-title":"The first Hermansky\u2013Pudlak syndrome type 9 patient with two novel variants in Chinese population","volume":"48","author":"Liu","year":"2021","journal-title":"J. Dermatol."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1080\/09537104.2020.1742315","article-title":"A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies","volume":"32","author":"Michaud","year":"2021","journal-title":"Platelets"},{"key":"ref_158","doi-asserted-by":"crossref","unstructured":"Kahani, S.M., Saray, A.R., Kahaei, M.S., Dehghani, A., Mohammadi, P., and Garshasbi, M. (2024). A novel deletion in the BLOC1S6 Gene Associated with Hermansky-Pudlak syndrome type 9 (HPS-9). BMC Genom., 25.","DOI":"10.1186\/s12864-024-10478-w"},{"key":"ref_159","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1111\/pcmr.12662","article-title":"Characterization of melanosomes and melanin in Japanese patients with Hermansky\u2013Pudlak syndrome types 1, 4, 6, and 9","volume":"31","author":"Okamura","year":"2018","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1038\/s41588-023-01626-1","article-title":"Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans","volume":"56","author":"Feng","year":"2024","journal-title":"Nat. Genet."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/pcmr.12543","article-title":"A new type of syndromic albinism associated with mutations in AP3D1","volume":"30","author":"Montoliu","year":"2017","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_162","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1182\/blood-2015-09-671636","article-title":"Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome","volume":"127","author":"Ammann","year":"2016","journal-title":"Blood"},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"omaf184","DOI":"10.1093\/omcr\/omaf184","article-title":"Hermansky-Pudlak syndrome\u2014Rare type 10 with AP3D1 mutation","volume":"2025","author":"Balaraddi","year":"2025","journal-title":"Oxf. Med. Case Rep."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"103583","DOI":"10.1016\/j.ejmg.2018.11.017","article-title":"Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder","volume":"62","author":"Mohammed","year":"2019","journal-title":"Eur. J. Med. Genet."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1007\/s00439-022-02506-0","article-title":"A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation","volume":"142","author":"Frohne","year":"2022","journal-title":"Hum. Genet."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"e00462","DOI":"10.1016\/j.plabm.2025.e00462","article-title":"Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants","volume":"45","author":"Alizadeh","year":"2025","journal-title":"Pract. Lab. Med."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1111\/pcmr.13055","article-title":"AP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio)","volume":"35","author":"Neuffer","year":"2022","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"9803","DOI":"10.1080\/21655979.2021.1995579","article-title":"Long noncoding RNA SNHG8 accelerates acute gouty arthritis development by upregulating AP3D1 in mice","volume":"12","author":"Fang","year":"2021","journal-title":"Bioengineered"},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1158\/2159-8290.CD-20-1571","article-title":"Loss of Optineurin Drives Cancer Immune Evasion via Palmitoylation-Dependent IFNGR1 Lysosomal Sorting and Degradation","volume":"11","author":"Du","year":"2021","journal-title":"Cancer Discov."},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"13450","DOI":"10.1038\/s41598-021-92786-9","article-title":"Serum anti-AP3D1 antibodies are risk factors for acute ischemic stroke related with atherosclerosis","volume":"11","author":"Li","year":"2021","journal-title":"Sci. Rep."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"1613","DOI":"10.1038\/s41436-020-0867-5","article-title":"BLOC1S5 pathogenic variants cause a new type of Hermansky\u2013Pudlak syndrome","volume":"22","author":"Pennamen","year":"2020","journal-title":"Genet. Med."},{"key":"ref_172","doi-asserted-by":"crossref","unstructured":"Boeckelmann, D., Wolter, M., K\u00e4smann-Kellner, B., Koehler, U., Schieber-Nakamura, L., and Zieger, B. (2021). A Novel Likely Pathogenic Variant in the BLOC1S5 Gene Associated with Hermansky-Pudlak Syndrome Type 11 and an Overview of Human BLOC-1 Deficiencies. Cells, 10.","DOI":"10.3390\/cells10102630"},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1111\/pcmr.12995","article-title":"A novel BLOC1S5-related HPS-11 patient and zebrafish with bloc1s5 disruption","volume":"34","author":"Zhong","year":"2021","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_174","first-page":"2701","article-title":"IRF4-BLOC1S5: The first rearrangement gene identified in TEMPI syndrome","volume":"109","author":"Zhao","year":"2024","journal-title":"Haematologica"},{"key":"ref_175","doi-asserted-by":"crossref","first-page":"e1303","DOI":"10.1097\/TXD.0000000000001303","article-title":"Lung Transplantation for Pulmonary Fibrosis Associated with Hermansky-Pudlak Syndrome. A Single-center Experience","volume":"8","author":"Benvenuto","year":"2022","journal-title":"Transplant. Direct"},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"994","DOI":"10.7326\/M21-4109","article-title":"The Challenge of Genetic Variants of Uncertain Clinical Significance: A Narrative Review","volume":"175","author":"Burke","year":"2022","journal-title":"Ann. Intern. Med."},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1186\/s13073-021-00965-0","article-title":"Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases","volume":"13","author":"Chowdhury","year":"2021","journal-title":"Genome Med."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/6\/643\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T04:20:04Z","timestamp":1780719604000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/17\/6\/643"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,5,31]]},"references-count":177,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2026,6]]}},"alternative-id":["genes17060643"],"URL":"https:\/\/doi.org\/10.3390\/genes17060643","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,5,31]]}}}