{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T11:44:16Z","timestamp":1792755856640,"version":"4.5.0"},"reference-count":18,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,11,5]]},"published-print":{"date-parts":[[2013,1]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Congenital hydrocephalus is an important birth defect that is heterogeneous in aetiology and clinical presentation. Although genetics is believed to play an important role in the aetiology of non-syndromic congenital hydrocephalus, the overwhelming majority of cases lack mutations in <jats:italic>L1CAM<\/jats:italic>, the only disease gene identified to date. The purpose of this study is to identify a novel genetic cause of congenital hydrocephalus.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Families with congenital hydrocephalus were phenotyped clinically and, in one family, autoyzogisty mapping and linkage analysis were pursued. Sequencing of the genes within the candidate locus was followed by targeted sequencing of the likely candidate gene in two other families.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We have identified a family in which severe congenital hydrocephalus of the communicating type follows an autosomal recessive mode of inheritance. Linkage analysis and autozygosity mapping narrowed the critical interval to 6.9\u2005Mb on 9p24.1\u2013p22.3 spanning just six genes. Direct sequencing of these genes revealed a truncating mutation in <jats:italic>MPDZ<\/jats:italic>, encoding a tight junction protein. Remarkably, we have also identified the same founder mutation in a stillbirth with massive congenital hydrocephalus from another family.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Our data strongly support the candidacy of <jats:italic>MPDZ<\/jats:italic> as a novel congenital hydrocephalus disease gene.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2012-101294","type":"journal-article","created":{"date-parts":[[2012,12,13]],"date-time":"2012-12-13T08:25:58Z","timestamp":1355387158000},"page":"54-58","source":"Crossref","is-referenced-by-count":95,"title":["Mutation in <i>MPDZ<\/i> causes severe congenital hydrocephalus"],"prefix":"10.1136","volume":"50","author":[{"given":"Mohammed S","family":"Al-Dosari","sequence":"first","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"},{"name":"Department of Pharmacognosy, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Al-Owain","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Tulbah","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wesam","family":"Kurdi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nouran","family":"Adly","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amal","family":"Al-Hemidan","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tariq A","family":"Masoodi","sequence":"additional","affiliation":[{"name":"Human Cancer Genomic Research, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Buthainah","family":"Albash","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fowzan S","family":"Alkuraya","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"},{"name":"Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia"},{"name":"Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2012,12,13]]},"reference":[{"key":"2025101713293598000_50.1.54.1","first-page":"113","article-title":"Time trends and demographics of deaths from congenital hydrocephalus in children in the United States: national center for health statistics data, 1979 to 1998","volume":"103","author":"Chi","year":"2005","journal-title":"J Neurosurg"},{"key":"2025101713293598000_50.1.54.2","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050830"},{"key":"2025101713293598000_50.1.54.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.06.005"},{"key":"2025101713293598000_50.1.54.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.025"},{"key":"2025101713293598000_50.1.54.5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20383"},{"key":"2025101713293598000_50.1.54.6","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti009"},{"key":"2025101713293598000_50.1.54.7","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/18.6.894"},{"key":"2025101713293598000_50.1.54.8","doi-asserted-by":"publisher","DOI":"10.1038\/nature06258"},{"key":"2025101713293598000_50.1.54.9","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"2025101713293598000_50.1.54.10","unstructured":"Schrander-Stumpel C Vos YJ . 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