{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:33:13Z","timestamp":1791325993991,"version":"4.3.1"},"reference-count":10,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2012,12,17]]},"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Meckel\u2013Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality, occipital encephalocele, polydactyly, and polycystic kidney disease.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Purpose<\/jats:title>\n                  <jats:p>To report genetic analysis results in two families in which all known MKS diseases genes have been excluded.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>In two consanguineous families with classical MKS in which autozygome-guided sequencing of previously reported MKS genes was negative, we performed exome sequencing followed by autozygome filtration.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We identified one novel splicing mutation in <jats:italic>TMEM231<\/jats:italic>, which led to complete degradation of the mutant transcript in one family, and a novel missense mutation in the other, both in the homozygous state.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>\n                     <jats:italic>TMEM231<\/jats:italic> represents a novel MKS locus. The very recent identification of <jats:italic>TMEM231<\/jats:italic> mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmedgenet-2012-101431","type":"journal-article","created":{"date-parts":[[2013,1,24]],"date-time":"2013-01-24T21:20:00Z","timestamp":1359062400000},"page":"160-162","source":"Crossref","is-referenced-by-count":38,"title":["Mutations in <i>TMEM231<\/i> cause Meckel\u2013Gruber syndrome"],"prefix":"10.1136","volume":"50","author":[{"given":"Ranad","family":"Shaheen","sequence":"first","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinu","family":"Ansari","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elham AL","family":"Mardawi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Security Forces Hospital, Riyadh, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muneera J","family":"Alshammari","sequence":"additional","affiliation":[{"name":"Department of Genetics, King Faisal Specialist Hospital and Research Center, 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"}]},{"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"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2013,1,24]]},"reference":[{"key":"2025101712282163000_50.3.160.1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra1010172"},{"key":"2025101712282163000_50.3.160.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.10.036"},{"key":"2025101712282163000_50.3.160.3","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.09.014"},{"key":"2025101712282163000_50.3.160.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2012.04.006"},{"key":"2025101712282163000_50.3.160.5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr354"},{"key":"2025101712282163000_50.3.160.6","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1111\/j.1399-0004.1981.tb01811.x","article-title":"Phenotypic variation in Meckel syndrome","volume":"20","author":"Seller","year":"1981","journal-title":"Clin Genet"},{"key":"2025101712282163000_50.3.160.7","doi-asserted-by":"crossref","unstructured":"Shaheen R Faqeih E Alshammari MJ Swaid A Al-Gazali L Mardawi E Ansari S Sogaty S Seidahmed MZ Almotairi MI Farra C Kurdi W Al-Rasheed S Alkuraya FS . Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes. Eur J Hum Genet 2012.","DOI":"10.1038\/ejhg.2012.254"},{"key":"2025101712282163000_50.3.160.8","doi-asserted-by":"crossref","unstructured":"Alkuraya FS . Discovery of rare homozygous mutations from studies of consanguineous pedigrees. Current protocols in human genetics\/editorial board, Jonathan L Haines [et al] Chapter 6, Unit6 12. 2012.","DOI":"10.1002\/0471142905.hg0612s75"},{"key":"2025101712282163000_50.3.160.9","doi-asserted-by":"publisher","DOI":"10.1038\/ncb2410"},{"key":"2025101712282163000_50.3.160.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-101132"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmedgenet-2012-101431","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T19:28:29Z","timestamp":1760729309000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmedgenet-2012-101431"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,1,24]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2013,2,13]]},"published-print":{"date-parts":[[2013,3]]}},"alternative-id":["10.1136\/jmedgenet-2012-101431"],"URL":"https:\/\/doi.org\/10.1136\/jmedgenet-2012-101431","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,1,24]]}}}