{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:16:14Z","timestamp":1791206174785,"version":"4.1.0"},"reference-count":65,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T00:00:00Z","timestamp":1761091200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Accessory breasts denote the formation of extra breast tissue along the milk line, and are known to be more prevalent among Black and Asian populations, affecting both genders. This first-ever study aimed to determine the genetic aetiology of accessory breasts in a multiplex family, where all female siblings present with bilateral accessory breasts. The study also ascertained secondary findings (SFs) responsible for comorbidities. Clinical data and saliva samples were obtained from all family members. Ultrasound and histopathology confirmed the diagnosis. Whole-exome sequencing was conducted on DNA samples obtained from the saliva, with variant calling conducted utilising the Sentieon workflow. Variant classification was based on American College of Medical Genetics and Genomics guidelines. After segregation analysis, 12 candidate genes emerged. Among these, PRSS50 and FANCC emerged as top candidates, being implicated in breast diseases. However, two variants in FANCC (c.360del; p.His120GlnfsTer24 and c.355_358del; p.Ser119IlefsTer24) were selected as the most probable causal variants because of the role of this gene in hereditary breast and ovarian cancer syndromes. The remaining ten genes were reported as potentially accounting for comorbidities segregating with accessory breasts. Reported SFs involve TTR and RYR1. In conclusion, pathogenic variants in FANCC cause familial accessory breasts. These novel observations impact pathophysiology, genetic counselling, and personalised medicine.<\/jats:p>","DOI":"10.3390\/cimb47110875","type":"journal-article","created":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T05:20:44Z","timestamp":1761196844000},"page":"875","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Pathogenic FANCC Variants Are Associated with Accessory Breasts in a Sub-Saharan African Multiplex Family"],"prefix":"10.3390","volume":"47","author":[{"given":"Abass Shaibu","family":"Danbaki","sequence":"first","affiliation":[{"name":"Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1139-9127","authenticated-orcid":false,"given":"Christian Opoku","family":"Asamoah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gideon Okyere","family":"Mensah","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7062-0402","authenticated-orcid":false,"given":"Bruce","family":"Tsri","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6252-6966","authenticated-orcid":false,"given":"Tamara D.","family":"Busch","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fareed Kow Nanse","family":"Arthur","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8419-8637","authenticated-orcid":false,"given":"Ishmael","family":"Kyei","sequence":"additional","affiliation":[{"name":"University Hospital, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence Kobina","family":"Blay","sequence":"additional","affiliation":[{"name":"University Hospital, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel","family":"Mensah","sequence":"additional","affiliation":[{"name":"University Hospital, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"},{"name":"Department of Surgery, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adebowale A.","family":"Adeyemo","sequence":"additional","affiliation":[{"name":"National Human Genomic Research Institute, National Institutes of Health, Bethesda, MD 20892, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1229-5964","authenticated-orcid":false,"given":"Azeez","family":"Butali","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, Radiology and Medicine, University of Iowa, Iowa, IA 52242, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Donkor","sequence":"additional","affiliation":[{"name":"Department of Surgery, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0080-9101","authenticated-orcid":false,"given":"Lord Jephthah Joojo","family":"Gowans","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology (KNUST), Kumasi 00233, Ghana"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.2214\/ajr.183.6.01831779","article-title":"MRI appearance of accessory breast tissue: A diagnostic consideration for an axillary mass in a peripubertal or pubertal girl","volume":"183","author":"Laor","year":"2004","journal-title":"Am. J. Roentgenol."},{"key":"ref_2","first-page":"520","article-title":"Polymastia: What you Should Know. From One Man Case Discovered by Chance","volume":"2","author":"Achir","year":"2023","journal-title":"Clin. Nurs."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"519","DOI":"10.3346\/jkms.2001.16.4.519","article-title":"Carcinoma originating from aberrant breast tissue of the right upper anterior chest wall: A case report","volume":"16","author":"Rho","year":"2001","journal-title":"J. Korean Med. Sci."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/S1548-5315(11)70863-4","article-title":"Breast cancer presenting in aberrant axillary breast tissue","volume":"2","author":"Bakker","year":"2005","journal-title":"Community Oncol. Elsevier Oncol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1007\/s00404-008-0905-z","article-title":"Accessory breast tissue presenting as a vulvar mass in an adolescent girl","volume":"280","author":"Hong","year":"2009","journal-title":"Arch. Gynecol. Obstet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1159\/000210638","article-title":"Accessory Breast Carcinoma","volume":"4","author":"Youn","year":"2009","journal-title":"Breast Care"},{"key":"ref_7","first-page":"155","article-title":"Larsen\u2019s Human Embryology","volume":"5","author":"Schoenwolf","year":"2014","journal-title":"Larsen\u2019s Hum. Embryol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"95","DOI":"10.4103\/0973-1482.42258","article-title":"Accessory breast tissue in axilla masquerading as breast cancer recurrence","volume":"4","author":"Goyal","year":"2008","journal-title":"J. Cancer Res. Ther."},{"key":"ref_9","first-page":"1","article-title":"Bilateral Accessory Breast","volume":"17","author":"Sahu","year":"2007","journal-title":"Internet J. Surg."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1177\/1055665618754948","article-title":"Novel GREM1 variations in Sub-Saharan African patients with cleft lip and\/or cleft palate","volume":"55","author":"Gowans","year":"2018","journal-title":"Cleft Palate-Craniofacial J."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1002\/gepi.22564","article-title":"Shared genetic risk between major orofacial cleft phenotypes in an African population","volume":"48","author":"Alade","year":"2024","journal-title":"Genet. Epidemiol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1338","DOI":"10.12688\/f1000research.15931.1","article-title":"FastQ Screen: A tool for multi-genome mapping and quality control","volume":"7","author":"Wingett","year":"2018","journal-title":"F1000Research"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2114","DOI":"10.1093\/bioinformatics\/btu170","article-title":"Trimmomatic: A flexible trimmer for Illumina sequence data","volume":"30","author":"Bolger","year":"2014","journal-title":"Bioinformatics"},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Feng, X., Ping, J., Gao, S., Han, D., Song, W., Li, X., Tao, Y., and Wang, L. (2014). Novel JAG1 variants leading to Alagille syndrome in two Chinese cases. Sci. Rep., 14.","DOI":"10.1038\/s41598-024-52357-0"},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Kendig, K.I., Baheti, S., Bockol, M.A., Drucker, T.M., Hart, S.N., Heldenbrand, J.R., Hernaez, M., Hudson, M.E., Kalmbach, M.T., and Klee, E.W. (2019). Sentieon DNASeq Variant Calling Workflow Demonstrates Strong Computational Performance and Accuracy. Front. Genet., 10.","DOI":"10.3389\/fgene.2019.00736"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1038\/s41467-024-44804-3","article-title":"Utility of long-read sequencing for All of Us","volume":"15","author":"Mahmoud","year":"2024","journal-title":"Nat. Commun."},{"key":"ref_17","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_18","doi-asserted-by":"crossref","first-page":"R27","DOI":"10.1093\/hmg\/ddt384","article-title":"Databases of genomic variation and phenotypes: Existing resources and future needs","volume":"22","author":"Johnston","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"D941","DOI":"10.1093\/nar\/gkz836","article-title":"The International Genome Sample Resource (IGSR) collection of open human genomic variation resources","volume":"48","author":"Fairley","year":"2020","journal-title":"Nucleic Acids Res."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1002\/humu.24309","article-title":"Variant interpretation using population databases: Lessons from gnomAD","volume":"43","author":"Gudmundsson","year":"2022","journal-title":"Hum. Mutat."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1186\/s13073-020-00803-9","article-title":"dbNSFP v4: A comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs","volume":"12","author":"Liu","year":"2020","journal-title":"Genome Med."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"D877","DOI":"10.1093\/nar\/gkw1012","article-title":"MalaCards: An amalgamated human disease compendium with diverse clinical and genetic annotation and structured search","volume":"45","author":"Rappaport","year":"2017","journal-title":"Nucleic Acids Res."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Stelzer, G., Plaschkes, I., Oz-Levi, D., Alkelai, A., Olender, T., Zimmerman, S., Twik, M., Belinky, F., Fishilevich, S., and Nudel, R. (2016). VarElect: The phenotype-based variation prioritizer of the GeneCards Suite. BMC Genom., 17.","DOI":"10.1186\/s12864-016-2722-2"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1.13.1","DOI":"10.1002\/0471250953.bi0113s39","article-title":"The Human Gene Mutation Database (HGMD) and its exploitation in the fields of personalized genomics and molecular evolution","volume":"39","author":"Stenson","year":"2012","journal-title":"Curr. Protoc. Bioinform."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"D1038","DOI":"10.1093\/nar\/gky1151","article-title":"OMIM.org: Leveraging knowledge across phenotype-gene relationships","volume":"47","author":"Amberger","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"D1313","DOI":"10.1093\/nar\/gkae1090","article-title":"ClinVar: Updates to support classifications of both germline and somatic variants","volume":"53","author":"Landrum","year":"2025","journal-title":"Nucleic Acids Res."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"iyae031","DOI":"10.1093\/genetics\/iyae031","article-title":"Mouse Genome Informatics: An integrated knowledgebase system for the laboratory mouse","volume":"227","author":"Baldarelli","year":"2024","journal-title":"Genetics"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Del Valle, J., Rofes, P., Moreno-Cabrera, J.M., L\u00f3pez-D\u00f3riga, A., Belhadj, S., Vargas-Parra, G., Teul\u00e9, \u00c0., Cuesta, R., Mu\u00f1oz, X., and Campos, O. (2020). Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients. Cancers, 12.","DOI":"10.3390\/cancers12040829"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1016\/j.gim.2022.04.006","article-title":"ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)","volume":"24","author":"Miller","year":"2022","journal-title":"Genet. Med."},{"key":"ref_30","first-page":"45","article-title":"Accessory breast tissue in the axilla in a puerperal woman- case study","volume":"49","author":"Lakkawar","year":"2010","journal-title":"Acta Medica Median."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/978-3-030-41596-9_1","article-title":"Anatomy and physiology of the breast during pregnancy and lactation","volume":"1252","author":"Alex","year":"2020","journal-title":"Adv. Exp. Med. Biol."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Schock, H., Zeleniuch-Jacquotte, A., Lundin, E., Grankvist, K., Lakso, H.\u00c5., Idahl, A., Lehtinen, M., Surcel, H.M., and Fortner, R.T. (2016). Hormone concentrations throughout uncomplicated pregnancies: A longitudinal study. BMC Pregnancy Childbirth, 16.","DOI":"10.1186\/s12884-016-0937-5"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"601","DOI":"10.4103\/jfmpc.jfmpc_1688_20","article-title":"An alternative yogic approach for cyclical mastalgia\u2014A narrative review","volume":"10","author":"Jaiswal","year":"2021","journal-title":"J. Fam. Med. Prim. Care"},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1093\/jbi\/wbz082","article-title":"A review of breast pain: Causes, imaging recommendations, and treatment","volume":"2","author":"Sivarajah","year":"2020","journal-title":"J. Breast Imaging"},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1159\/000444359","article-title":"Factors effecting mastalgia","volume":"11","author":"Eren","year":"2016","journal-title":"Breast Care"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1016\/j.jemermed.2010.11.033","article-title":"Ectopic glandular breast tissue in a lactating young woman","volume":"41","author":"Farcy","year":"2011","journal-title":"J. Emerg. Med."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/978-3-319-04831-4_1","article-title":"Anatomy of the breast","volume":"Volume 1","author":"Darlington","year":"2015","journal-title":"Digital Mammography: A Holistic Approach"},{"key":"ref_38","first-page":"365","article-title":"Breast embryology, anatomy, and physiology","volume":"Volume 1","author":"Lopez","year":"2017","journal-title":"Endocrine Surgery in Children"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1609990","DOI":"10.3389\/pore.2021.1609990","article-title":"Expression of TSP50, SERCA2 and IL-8 in Colorectal Adenoma and Carcinoma: Correlation to Clinicopathological Factors","volume":"27","author":"Youssef","year":"2021","journal-title":"Pathol. Oncol. Res."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"5948","DOI":"10.1038\/onc.2017.198","article-title":"Testes-specific protease 50 promotes cell proliferation via inhibiting activin signaling","volume":"36","author":"Song","year":"2017","journal-title":"Oncogene"},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1089\/dna.2020.6260","article-title":"miR-4709-3p Inhibits Cell Proliferation by Downregulating TSP50 Expression in Breast Cancer Cells","volume":"40","author":"Wang","year":"2021","journal-title":"DNA Cell Biol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.24272\/j.issn.2095-8137.2023.388","article-title":"PRSS50-mediated inhibition of MKP3\/ERK signaling is crucial for meiotic progression and sperm quality","volume":"45","author":"Niu","year":"2024","journal-title":"Zool. Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.ygyno.2017.04.009","article-title":"Multigene panels in Ashkenazi Jewish patients yield high rates of actionable mutations in multiple non-BRCA cancer-associated genes","volume":"146","author":"Frey","year":"2017","journal-title":"Gynecol. Oncol."},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Thompson, E.R., Doyle, M.A., Ryland, G.L., Rowley, S.M., Choong, D.Y.H., Tothill, R.W., Thorne, H., Barnes, D.R., Li, J., and Ellul, J. (2012). Exome Sequencing Identifies Rare Deleterious Mutations in DNA Repair Genes FANCC and BLM as Potential Breast Cancer Susceptibility Alleles. PLoS Genet., 8.","DOI":"10.1371\/journal.pgen.1002894"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1392","DOI":"10.1182\/blood.V98.5.1392","article-title":"The Fanconi anemia complementation group C gene product: Structural evidence of multifunctionality","volume":"98","author":"Pang","year":"2001","journal-title":"Blood"},{"key":"ref_46","first-page":"359","article-title":"Unravelling mechanisms of p53-mediated tumour suppression","volume":"14","author":"Bieging","year":"2014","journal-title":"Cancer"},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Aub\u00e9, M., Lafrance, M., Brodeur, I., Delisle, M.-C., and Carreau, M. (2003). Fanconi anemia genes are highly expressed in primitive CD34 + hematopoietic cells\u2019. BMC Blood Disord., 3.","DOI":"10.1186\/1471-2326-3-1"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"D619","DOI":"10.1093\/nar\/gkn863","article-title":"Reactome knowledgebase of human biological pathways and processes","volume":"37","author":"Matthews","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Pan, Z.W., Wang, X.J., Chen, T., Ding, X.W., Jiang, X., Gao, Y., Mo, W.J., Huang, Y., Lou, C.J., and Cao, W.M. (2019). Deleterious mutations in DNA repair gene FANCC exist in BRCA1\/2-negative Chinese familial breast and\/or ovarian cancer patients. Front. Oncol., 9.","DOI":"10.3389\/fonc.2019.00169"},{"key":"ref_50","unstructured":"D\u00f6rk, T., Peterlongo, P., Mannermaa, A., Bolla, M.K., Wang, Q., Dennis, J., Ahearn, T., Andrulis, I.L., Anton-Culver, H., and Arndt, V. (2019). Two truncating variants in FANCC and breast cancer risk. Sci. Rep., 9."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s00401-023-02665-y","article-title":"Novel lissencephaly-associated NDEL1 variant reveals distinct roles of NDE1 and NDEL1 in nucleokinesis and human cortical malformations","volume":"147","author":"Tsai","year":"2024","journal-title":"Acta Neuropathol."},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"Soto-Perez, J., Baumgartner, M., and Kanadia, R.N. (2020). Role of NDE1 in the Development and Evolution of the Gyrified Cortex. Front. Neurosci., 14.","DOI":"10.3389\/fnins.2020.617513"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1186\/s13287-023-03482-6","article-title":"Loss of Dip2b leads to abnormal neural differentiation from mESCs","volume":"14","author":"Yao","year":"2023","journal-title":"Stem Cell Res. Ther."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1111\/nyas.14135","article-title":"Gpr126 (Adgrg6) is expressed in cell types known to be exposed to mechanical stimuli","volume":"1456","author":"Musa","year":"2019","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Gowhari Shabgah, A., Jadidi-Niaragh, F., Mohammadi, H., Ebrahimzadeh, F., Oveisee, M., Jahanara, A., and Gholizadeh Navashenaq, J. (2022). The Role of Atypical Chemokine Receptor D6 (ACKR2) in Physiological and Pathological Conditions; Friend, Foe, or Both?. Front. Immunol., 13.","DOI":"10.3389\/fimmu.2022.861931"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"433","DOI":"10.17219\/dmp\/122004","article-title":"Relationship of the rs10850110 and rs11611277 polymorphisms of the MYO1H gene with non-syndromic mandibular prognathism in the Iranian population","volume":"57","author":"Dalaie","year":"2020","journal-title":"Dent. Med. Probl."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1136\/jmedgenet-2017-104765","article-title":"Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction","volume":"54","author":"Spielmann","year":"2017","journal-title":"J. Med. Genet."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.molcel.2021.12.008","article-title":"Identification and functional characterization of transcriptional activators in human cells","volume":"82","author":"Alerasool","year":"2022","journal-title":"Mol. Cell"},{"key":"ref_59","doi-asserted-by":"crossref","unstructured":"Yuan, Y., Qi, P., Xiang, W., Yanhui, L., Yu, L., and Qing, M. (2020). Multi-Omics Analysis Reveals Novel Subtypes and Driver Genes in Glioblastoma. Front. Genet., 11.","DOI":"10.3389\/fgene.2020.565341"},{"key":"ref_60","first-page":"125","article-title":"Mapping choline metabolites in normal and transformed cells","volume":"16","author":"Roci","year":"2020","journal-title":"Metabolomics Off. J. Metabolomic Soc."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Li Yifei Shen, X., Yang, X., Lian, F., Li Yanping Li, J., Huang, Y., Shen, W., and Liu, H. (2023). CHDH, a key mitochondrial enzyme, plays a diagnostic role in metabolic disorders diseases and tumor progression. Front. Genet., 14.","DOI":"10.3389\/fgene.2023.1240650"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1038\/s41431-020-0617-9","article-title":"CUGC for lysinuric protein intolerance (LPI)","volume":"28","author":"Martinelli","year":"2020","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1093\/bja\/aep204","article-title":"Genetic variation in RYR1 and malignant hyperthermia phenotypes","volume":"103","author":"Carpenter","year":"2009","journal-title":"Br. J. Anaesth."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"102385","DOI":"10.1016\/j.cpcardiol.2024.102385","article-title":"Prevalence of transthyretin amyloid cardiomyopathy in patients admitted for acute heart failure","volume":"49","author":"Spaccavento","year":"2024","journal-title":"Curr. Probl. Cardiol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1002\/mgg3.231","article-title":"The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa","volume":"4","author":"Jacobson","year":"2016","journal-title":"Mol. Genet. Genom. Med."}],"container-title":["Current Issues in Molecular Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1467-3045\/47\/11\/875\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,23]],"date-time":"2025-10-23T06:22:01Z","timestamp":1761200521000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1467-3045\/47\/11\/875"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,22]]},"references-count":65,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11]]}},"alternative-id":["cimb47110875"],"URL":"https:\/\/doi.org\/10.3390\/cimb47110875","relation":{},"ISSN":["1467-3045"],"issn-type":[{"value":"1467-3045","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,22]]}}}