{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T22:20:34Z","timestamp":1783635634016,"version":"3.55.0"},"reference-count":49,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T00:00:00Z","timestamp":1780617600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"vor","delay-in-days":34,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"National Institute for Health and Care Research (NIHR) Exeter Biomedical Research Centre"},{"DOI":"10.13039\/501100010221","name":"Higher Education Commision, Pakistan","doi-asserted-by":"publisher","award":["Ref. No. 20-16396\/NRPU\/R&D\/HEC\/2021-2020"],"award-info":[{"award-number":["Ref. No. 20-16396\/NRPU\/R&D\/HEC\/2021-2020"]}],"id":[{"id":"10.13039\/501100010221","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"DOI":"10.1186\/s12883-026-05027-9","type":"journal-article","created":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T13:05:36Z","timestamp":1780664736000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the genetic spectrum of autosomal recessive microcephaly in Pakistani families"],"prefix":"10.1186","volume":"26","author":[{"given":"Bilal","family":"Ahmad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Adams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iram","family":"Javed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Tariq","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anees","family":"Muhammad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Harrold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca J.","family":"Almond","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nishanka","family":"Ubeyratna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Tahir","family":"Sarwar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph S.","family":"Leslie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew H.","family":"Crosby","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L.","family":"Baple","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lettie E.","family":"Rawlins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Qasim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,6,5]]},"reference":[{"key":"5027_CR1","doi-asserted-by":"publisher","unstructured":"Zaqout S, Kaindl AM. Autosomal Recessive Primary Microcephaly: Not Just a Small Brain. Front Cell Dev Biol. 2022;9. https:\/\/doi.org\/10.3389\/FCELL.2021.784700.","DOI":"10.3389\/FCELL.2021.784700"},{"key":"5027_CR2","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1016\/j.clp.2022.04.004","volume":"49","author":"C Okafor","year":"2022","unstructured":"Okafor C, Kanekar S. Imaging of Microcephaly. Clin Perinatol. 2022;49:693\u2013713. https:\/\/doi.org\/10.1016\/j.clp.2022.04.004.","journal-title":"Clin Perinatol"},{"key":"5027_CR3","doi-asserted-by":"publisher","first-page":"570830","DOI":"10.3389\/FNEUR.2020.570830\/FULL","volume":"11","author":"F Jean","year":"2020","unstructured":"Jean F, Stuart A, Tarailo-Graovac M. Dissecting the Genetic and Etiological Causes of Primary Microcephaly. Front Neurol. 2020;11:570830. https:\/\/doi.org\/10.3389\/FNEUR.2020.570830\/FULL.","journal-title":"Front Neurol"},{"key":"5027_CR4","doi-asserted-by":"publisher","first-page":"1242448","DOI":"10.3389\/FNINS.2023.1242448\/FULL","volume":"17","author":"X Wu","year":"2023","unstructured":"Wu X, Li Z, Wang ZQ, Xu X. The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM. Front Neurosci. 2023;17:1242448. https:\/\/doi.org\/10.3389\/FNINS.2023.1242448\/FULL.","journal-title":"Front Neurosci"},{"key":"5027_CR5","doi-asserted-by":"publisher","first-page":"1242448","DOI":"10.3389\/FNINS.2023.1242448","volume":"17","author":"X Wu","year":"2023","unstructured":"Wu X, Li Z, Wang ZQ, Xu X. The neurological and non-neurological roles of the primary microcephaly-associated protein ASPM. Front Neurosci. 2023;17:1242448. https:\/\/doi.org\/10.3389\/FNINS.2023.1242448.","journal-title":"Front Neurosci"},{"key":"5027_CR6","doi-asserted-by":"publisher","first-page":"e1408","DOI":"10.1002\/MGG3.1408","volume":"8","author":"S Rasool","year":"2020","unstructured":"Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, et al. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Mol Genet Genomic Med. 2020;8:e1408. https:\/\/doi.org\/10.1002\/MGG3.1408.","journal-title":"Mol Genet Genomic Med"},{"key":"5027_CR7","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/S10048-024-00759-7","volume":"25","author":"A Saima, Khan","year":"2024","unstructured":"Saima, Khan A, Ali S, Jiang J, Miao Z, Kamil A, et al. Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability. Neurogenetics. 2024;25:179\u201391. https:\/\/doi.org\/10.1007\/S10048-024-00759-7.","journal-title":"Neurogenetics"},{"key":"5027_CR8","doi-asserted-by":"publisher","first-page":"1551","DOI":"10.1101\/GAD.348866.121","volume":"35","author":"TP Phan","year":"2021","unstructured":"Phan TP, Holland AJ. Time is of the essence: the molecular mechanisms of primary microcephaly. Genes Dev. 2021;35:1551. https:\/\/doi.org\/10.1101\/GAD.348866.121.","journal-title":"Genes Dev"},{"key":"5027_CR9","doi-asserted-by":"publisher","unstructured":"Vacca F, Yalcin B, Ansar M. Exploring the pathological mechanisms underlying Cohen syndrome. Front Neurosci. 2024;18. https:\/\/doi.org\/10.3389\/fnins.2024.1431400.","DOI":"10.3389\/fnins.2024.1431400"},{"key":"5027_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/S41598-022-13717-W;SUBJMETA","volume":"12","author":"M Zorn","year":"2022","unstructured":"Zorn M, K\u00fchnisch J, Bachmann S, Seifert W. Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome. Sci Rep. 2022;12:1\u201311. https:\/\/doi.org\/10.1038\/S41598-022-13717-W;SUBJMETA.","journal-title":"Sci Rep"},{"key":"5027_CR11","doi-asserted-by":"publisher","unstructured":"Erdogan M, Unal A, Dogan ME, Oguz S, Balta B, Ada Y, et al. A Rare Cause of Primary Microcephaly: 4 New Variants in CDK5RAP2 Gene and Review of the Literature. Am J Med Genet A. 2025;197. https:\/\/doi.org\/10.1002\/ajmg.a.64072.","DOI":"10.1002\/ajmg.a.64072"},{"key":"5027_CR12","doi-asserted-by":"publisher","first-page":"1565296","DOI":"10.3389\/FGENE.2025.1565296\/BIBTEX","volume":"16","author":"JV Almeida","year":"2025","unstructured":"Almeida JV, Abdala BB, Rabelo NC, Gomes ME, Ferreira Bastos E, Llerena JC, et al. Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report. Front Genet. 2025;16:1565296. https:\/\/doi.org\/10.3389\/FGENE.2025.1565296\/BIBTEX.","journal-title":"Front Genet"},{"key":"5027_CR13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/S13073-023-01192-5\/FIGURES\/2","volume":"15","author":"D Monies","year":"2023","unstructured":"Monies D, Goljan E, Binmanee AM, Alashwal AAZ, Alsonbul AM, Alhussaini AA, et al. The clinical utility of rapid exome sequencing in a consanguineous population. Genome Med. 2023;15:1\u201314. https:\/\/doi.org\/10.1186\/S13073-023-01192-5\/FIGURES\/2.","journal-title":"Genome Med"},{"key":"5027_CR14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.64191","author":"Z Khalid","year":"2025","unstructured":"Khalid Z, Adams M, Muhammad A, Tehreen R, Azeem A, Ahmed A, et al. Challenges in Genomic Variant Interpretation Within Pakistani Populations due to Genomic Healthcare Inequalities. Am J Med Genet A. 2025. https:\/\/doi.org\/10.1002\/ajmg.a.64191.","journal-title":"Am J Med Genet A"},{"key":"5027_CR15","doi-asserted-by":"publisher","first-page":"261","DOI":"10.1017\/S0021932098002612","volume":"30","author":"R Hussain","year":"1998","unstructured":"Hussain R, Bittles AH. The prevalence and demographic characteristics of consanguineous marriages in Pakistan. J Biosoc Sci. 1998;30:261\u201375. https:\/\/doi.org\/10.1017\/S0021932098002612.","journal-title":"J Biosoc Sci"},{"key":"5027_CR16","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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. Genet Med 2015. 2015;17:5. https:\/\/doi.org\/10.1038\/gim.2015.30.","journal-title":"Genet Med 2015"},{"key":"5027_CR17","unstructured":"Durkie M, Cassidy E-J, Berry I, Owens M, Turnbull C, Scott RH, et al. ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024. Assoc Clin Genomic Sci. 2024;56."},{"key":"5027_CR18","doi-asserted-by":"publisher","first-page":"1341864","DOI":"10.3389\/FNEUR.2024.1341864\/BIBTEX","volume":"15","author":"H Chen","year":"2024","unstructured":"Chen H, Zheng Y, Wu H, Cai N, Xu G, Lin Y, et al. Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript. Front Neurol. 2024;15:1341864. https:\/\/doi.org\/10.3389\/FNEUR.2024.1341864\/BIBTEX.","journal-title":"Front Neurol"},{"key":"5027_CR19","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1097\/MCD.0000000000000426","volume":"31","author":"K Karaer","year":"2022","unstructured":"Karaer K, Karaer D, Y\u00fcksel Z, I\u015fikay S. Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum. Clin Dysmorphol. 2022;31:167\u201373. https:\/\/doi.org\/10.1097\/MCD.0000000000000426.","journal-title":"Clin Dysmorphol"},{"key":"5027_CR20","doi-asserted-by":"publisher","unstructured":"Chakraborty S, Govaerts J, Hawke A, Werbelow M, Schoborg T. The microcephaly protein Abnormal Spindle has an essential role in symmetrically dividing neural precursors to promote brain growth and development. BioRxiv. 2025;2025(0627662046). https:\/\/doi.org\/10.1101\/2025.06.27.662046.","DOI":"10.1101\/2025.06.27.662046"},{"key":"5027_CR21","doi-asserted-by":"publisher","first-page":"84","DOI":"10.12669\/PJMS.38.1.4464","volume":"38","author":"EUH Makhdoom","year":"2022","unstructured":"Makhdoom EUH, Anwar H, Baig SM, Hussain G. Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families. Pak J Med Sci. 2022;38:84\u20139. https:\/\/doi.org\/10.12669\/PJMS.38.1.4464.","journal-title":"Pak J Med Sci"},{"key":"5027_CR22","doi-asserted-by":"publisher","unstructured":"Razuvaeva AV, Graziadio L, Palumbo V, Pavlova GA, Popova JV, Pindyurin AV et al. The Multiple Mitotic Roles of the ASPM Orthologous Proteins: Insight into the Etiology of ASPM-Dependent Microcephaly. Cells 2023, Vol 12, 2023;12. https:\/\/doi.org\/10.3390\/CELLS12060922","DOI":"10.3390\/CELLS12060922"},{"key":"5027_CR23","doi-asserted-by":"publisher","unstructured":"Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, et al. Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size. Am J Hum Genet. 2003;73(5):1170-77. https:\/\/doi.org\/10.1086\/379085.","DOI":"10.1086\/379085"},{"key":"5027_CR24","doi-asserted-by":"publisher","unstructured":"Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, et al. An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Mol Genet Genomic Med. 2020;8. https:\/\/doi.org\/10.1002\/mgg3.1408.","DOI":"10.1002\/mgg3.1408"},{"key":"5027_CR25","doi-asserted-by":"publisher","unstructured":"Paracha SA, Nawaz S, Tahir Sarwar M, Shaheen A, Zaman G, Ahmed J, et al. The genetic cause of neurodevelopmental disorders in 30 consanguineous families. Front Med (Lausanne). 2024;11. https:\/\/doi.org\/10.3389\/fmed.2024.1424753.","DOI":"10.3389\/fmed.2024.1424753"},{"key":"5027_CR26","doi-asserted-by":"publisher","first-page":"2296","DOI":"10.1002\/bab.2286","volume":"69","author":"S Hussain","year":"2022","unstructured":"Hussain S, Nawaz A, Hamid M, Ullah W, Khan IN, Afshan M, et al. Mutation screening of multiple Pakistani MCPH families revealed novel and recurrent protein-truncating mutations of ASPM. Biotechnol Appl Biochem. 2022;69:2296\u2013303. https:\/\/doi.org\/10.1002\/bab.2286.","journal-title":"Biotechnol Appl Biochem"},{"key":"5027_CR27","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1111\/j.1399-0004.2012.01932.x","volume":"83","author":"M Sajid Hussain","year":"2013","unstructured":"Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, et al. Genetic heterogeneity in Pakistani microcephaly families. Clin Genet. 2013;83:446\u201351. https:\/\/doi.org\/10.1111\/j.1399-0004.2012.01932.x.","journal-title":"Clin Genet"},{"key":"5027_CR28","doi-asserted-by":"publisher","unstructured":"Issa MY, Chechlacz Z, Stanley V, George RD, McEvoy-Venneri J, Belandres D et al. Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. BMC Med Genomics. 2020;13. https:\/\/doi.org\/10.1186\/s12920-020-0714-1.","DOI":"10.1186\/s12920-020-0714-1"},{"key":"5027_CR29","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1038\/jhg.2016.128","volume":"62","author":"R Wang","year":"2017","unstructured":"Wang R, Khan A, Han S, Zhang X. Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing. J Hum Genet. 2017;62:299\u2013304. https:\/\/doi.org\/10.1038\/jhg.2016.128.","journal-title":"J Hum Genet"},{"key":"5027_CR30","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1002\/humu.23381","volume":"39","author":"P L\u00e9tard","year":"2018","unstructured":"L\u00e9tard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, et al. Autosomal recessive primary microcephaly due to ASPM mutations: An update. Hum Mutat. 2018;39:319\u201332. https:\/\/doi.org\/10.1002\/humu.23381.","journal-title":"Hum Mutat"},{"key":"5027_CR31","doi-asserted-by":"publisher","first-page":"1907","DOI":"10.1242\/DEV.040410","volume":"137","author":"SB Lizarraga","year":"2010","unstructured":"Lizarraga SB, Margossian SP, Harris MH, Campagna DR, Han AP, Blevins S, et al. Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors. Development. 2010;137:1907\u201317. https:\/\/doi.org\/10.1242\/DEV.040410.","journal-title":"Development"},{"key":"5027_CR32","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1186\/1750-1172-8-59","volume":"8","author":"L Issa","year":"2013","unstructured":"Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, et al. Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. Orphanet J Rare Dis. 2013;8:59. https:\/\/doi.org\/10.1186\/1750-1172-8-59.","journal-title":"Orphanet J Rare Dis"},{"key":"5027_CR33","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1016\/j.ejmg.2017.07.017","volume":"60","author":"U Abdullah","year":"2017","unstructured":"Abdullah U, Farooq M, Mang Y, Marriam Bakhtiar S, Fatima A, Hansen L, et al. A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family. Eur J Med Genet. 2017;60:627\u201330. https:\/\/doi.org\/10.1016\/j.ejmg.2017.07.017.","journal-title":"Eur J Med Genet"},{"key":"5027_CR34","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.3390\/genes16101120","volume":"16","author":"B Yeter","year":"2025","unstructured":"Yeter B, Kendir Demirkol Y, Usluer E, G\u00f6r\u00fc\u015fen Kavak \u0130, Ergin SG, El\u00e7io\u011flu NH. Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants. Genes (Basel). 2025;16:1120. https:\/\/doi.org\/10.3390\/genes16101120.","journal-title":"Genes (Basel)"},{"key":"5027_CR35","doi-asserted-by":"publisher","unstructured":"Pattison L, Crow YJ, Deeble VJ, Jackson AP, Jafri H, Rashid Y, et al. A Fifth Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 1q31. Am J Hum Genet. 2000;67(6):1578\u201380. https:\/\/doi.org\/10.1086\/316910.","DOI":"10.1086\/316910"},{"key":"5027_CR36","doi-asserted-by":"publisher","unstructured":"Moynihan L, Jackson AP, Roberts E, Karbani G, Lewis I, Corry P, et al. A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34. Am J Hum Genet. 2000;66(2):724\u20137. https:\/\/doi.org\/10.1086\/302777.","DOI":"10.1086\/302777"},{"key":"5027_CR37","doi-asserted-by":"publisher","unstructured":"Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, et al. Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. Orphanet J Rare Dis. 2013;8:59. https:\/\/doi.org\/10.1186\/1750-1172-8-59.","DOI":"10.1186\/1750-1172-8-59"},{"key":"5027_CR38","doi-asserted-by":"publisher","first-page":"2044","DOI":"10.1080\/15384101.2015.1044169","volume":"14","author":"N Kraemer","year":"2015","unstructured":"Kraemer N, Ravindran E, Zaqout S, Neubert G, Schindler D, Ninnemann O, et al. Loss of CDK5RAP2 affects neural but not non-neural mESC differentiation into cardiomyocytes. Cell Cycle. 2015;14:2044\u201357. https:\/\/doi.org\/10.1080\/15384101.2015.1044169.","journal-title":"Cell Cycle"},{"key":"5027_CR39","doi-asserted-by":"publisher","first-page":"3676","DOI":"10.1242\/jcs.203703","volume":"130","author":"EA Tungadi","year":"2017","unstructured":"Tungadi EA, Ito A, Kiyomitsu T, Goshima G. Human microcephaly ASPM protein is a spindle pole-focusing factor that functions redundantly with CDK5RAP2. J Cell Sci. 2017;130:3676\u201384. https:\/\/doi.org\/10.1242\/jcs.203703.","journal-title":"J Cell Sci"},{"key":"5027_CR40","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1016\/j.braindev.2013.10.006","volume":"36","author":"A Fujimori","year":"2014","unstructured":"Fujimori A, Itoh K, Goto S, Hirakawa H, Wang B, Kokubo T, et al. Disruption of Aspm causes microcephaly with abnormal neuronal differentiation. Brain Dev. 2014;36:661\u20139. https:\/\/doi.org\/10.1016\/j.braindev.2013.10.006.","journal-title":"Brain Dev"},{"key":"5027_CR41","doi-asserted-by":"publisher","unstructured":"Tonosaki M, Fujimori A, Yaoi T, Itoh K. Loss of Aspm causes increased apoptosis of developing neural cells during mouse cerebral corticogenesis. PLoS ONE. 2023;18. https:\/\/doi.org\/10.1371\/journal.pone.0294893.","DOI":"10.1371\/journal.pone.0294893"},{"key":"5027_CR42","doi-asserted-by":"publisher","first-page":"37665","DOI":"10.1074\/jbc.M111.267971","volume":"286","author":"W Seifert","year":"2011","unstructured":"Seifert W, K\u00fchnisch J, Maritzen T, Horn D, Haucke V, Hennies HC. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem. 2011;286:37665\u201375. https:\/\/doi.org\/10.1074\/jbc.M111.267971.","journal-title":"J Biol Chem"},{"key":"5027_CR43","doi-asserted-by":"publisher","first-page":"3349","DOI":"10.1074\/jbc.M114.608174","volume":"290","author":"W Seifert","year":"2015","unstructured":"Seifert W, K\u00fchnisch J, Maritzen T, Lommatzsch S, Hennies HC, Bachmann S, et al. Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. J Biol Chem. 2015;290:3349\u201358. https:\/\/doi.org\/10.1074\/jbc.M114.608174.","journal-title":"J Biol Chem"},{"key":"5027_CR44","doi-asserted-by":"publisher","first-page":"e202411005","DOI":"10.1083\/JCB.202411005","volume":"223","author":"RP Lanau","year":"2024","unstructured":"Lanau RP, Campelo F. Stairway to the Golgi: Two paths VPS13B can go by. J Cell Biol. 2024;223:e202411005. https:\/\/doi.org\/10.1083\/JCB.202411005.","journal-title":"J Cell Biol"},{"key":"5027_CR45","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3390\/jcm9061886","volume":"9","author":"YK Lee","year":"2020","unstructured":"Lee YK, Hwang SK, Lee SK, Yang JE, Kwak JH, Seo H, et al. Cohen syndrome patient ipsc-derived neurospheres and forebrain-like glutamatergic neurons reveal reduced proliferation of neural progenitor cells and altered expression of synapse genes. J Clin Med. 2020;9:1\u201320. https:\/\/doi.org\/10.3390\/jcm9061886.","journal-title":"J Clin Med"},{"key":"5027_CR46","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1007\/S12041-017-0759-X","volume":"96","author":"MA Khan","year":"2017","unstructured":"Khan MA, Windpassinger C, Ali MZ, Zubair M, Gul H, Abbas S, et al. Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene. J Genet. 2017;96:383\u20137. https:\/\/doi.org\/10.1007\/S12041-017-0759-X.","journal-title":"J Genet"},{"key":"5027_CR47","doi-asserted-by":"publisher","first-page":"540","DOI":"10.1002\/JGC4.1676","volume":"32","author":"KG Sagaser","year":"2023","unstructured":"Sagaser KG, Malinowski J, Westerfield L, Proffitt J, Hicks MA, Toler TL, et al. Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors. J Genet Couns. 2023;32:540\u201357. https:\/\/doi.org\/10.1002\/JGC4.1676.","journal-title":"J Genet Couns"},{"key":"5027_CR48","doi-asserted-by":"publisher","first-page":"1415811","DOI":"10.3389\/FGENE.2024.1415811\/BIBTEX","volume":"15","author":"Q Huang","year":"2024","unstructured":"Huang Q, Wang Z, Teng Y, Zhang W, Wen J, Zhu H, et al. Application of whole exome sequencing in carrier screening for high-risk families without probands. Front Genet. 2024;15:1415811. https:\/\/doi.org\/10.3389\/FGENE.2024.1415811\/BIBTEX.","journal-title":"Front Genet"},{"key":"5027_CR49","volume-title":"GeneReviews [Internet]","author":"H Wang","year":"2006","unstructured":"Wang H, Xin B, Wensel C, Traboulsi E. Cohen Syndrome. In: Adam M, Bick S, Mirzaa G, editors. GeneReviews [Internet]. Seattle: GeneReviews; 2006."}],"container-title":["BMC Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12883-026-05027-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-026-05027-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12883-026-05027-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T22:01:25Z","timestamp":1783634485000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1186\/s12883-026-05027-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,5]]},"references-count":49,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["5027"],"URL":"https:\/\/doi.org\/10.1186\/s12883-026-05027-9","relation":{},"ISSN":["1471-2377"],"issn-type":[{"value":"1471-2377","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,5]]},"assertion":[{"value":"23 December 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 May 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 June 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Study protocols received approval from the Ethical Review Committee of Government College University Faisalabad, Pakistan (Approval No. GCUF\/ERC\/307), and from the Ethical Committee and Advanced Studies and Research Board at Khyber Medical University, Pakistan (IRB00013852). Written informed consent was obtained from all participating individuals or their legal guardians before their inclusion in the study. For participants younger than sixteen years of age, informed consent was obtained from their parents or legal guardians. All procedures involving human participants were performed in accordance with the principles outlined in the Declaration of Helsinki. Families were recruited through local clinicians, who conducted a detailed clinical assessment.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of clinical details and\/or genetic findings was obtained from all adult participants. For participants under 18 years of age, written informed consent for publication was obtained from their parents or legal guardians.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"449"}}