{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T04:14:04Z","timestamp":1791951244869,"version":"4.3.4"},"reference-count":21,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2009,5]]},"abstract":"\n Background:<\/jats:title>\n Fetal akinesia deformation sequence syndrome (FADS) is a heterogeneous disorder characterised by fetal akinesia and developmental defects including, in some case, pterygia. Multiple pterygium syndromes (MPS) are traditionally divided into prenatally lethal and non-lethal (such as Escobar) types. Previously, we and others reported that homozygous mutations in the fetal acetylcholine receptor \u03b3 subunit (CHRNG<\/jats:italic>) can cause both lethal and non-lethal MPS, demonstrating that pterygia resulted from fetal akinesia, and that mutations in the acetylcholine receptor subunits CHRNA1<\/jats:italic>, CHRND<\/jats:italic>, and Rapsyn (RAPSN<\/jats:italic>) can also result in a MPS\/FADS phenotype.<\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n We hypothesised that mutations in other acetylcholine receptor related genes may interfere with neurotransmission at the neuromuscular junction and so we analysed 14 cases of lethal MPS\/FADS without CHRNG, CHRNA1<\/jats:italic>, CHRNB1<\/jats:italic>, CHRND<\/jats:italic>, or RAPSN<\/jats:italic> mutations for mutations in DOK7<\/jats:italic>.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n A homozygous DOK7<\/jats:italic> splice site mutation, c.331+1G>T, was identified in a family with three children affected with lethal FADS. Previously DOK7<\/jats:italic> mutations have been reported to underlie a congenital myaesthenic syndrome with a characteristic \u201climb girdle\u201d pattern of muscle weakness.<\/jats:p>\n <\/jats:sec>\n \n Conclusion:<\/jats:title>\n This finding is consistent with the hypothesis that whereas incomplete loss of DOK7 function may cause congenital myasthenia, more severe loss of function can result in a lethal fetal akinesia phenotype.<\/jats:p>\n <\/jats:sec>","DOI":"10.1136\/jmg.2008.065425","type":"journal-article","created":{"date-parts":[[2009,3,4]],"date-time":"2009-03-04T20:13:32Z","timestamp":1236197612000},"page":"338-340","source":"Crossref","is-referenced-by-count":74,"title":["Germline mutation in DOK7<\/i> associated with fetal akinesia deformation sequence"],"prefix":"10.1136","volume":"46","author":[{"given":"J","family":"Vogt","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N V","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T","family":"Marton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Maxwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B J","family":"Harrison","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Beeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E R","family":"Maher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2009,3,3]]},"reference":[{"key":"2025101714565497000_46.5.338.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320120404"},{"key":"2025101714565497000_46.5.338.2","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1542\/peds.72.6.857","article-title":"Fetal alinesia deformation sequence: an animal model.","volume":"72","author":"Moessinger","year":"1983","journal-title":"Pediatrics"},{"key":"2025101714565497000_46.5.338.3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.2.96"},{"key":"2025101714565497000_46.5.338.4","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1002\/ajmg.a.31428","article-title":"Familial occurrence of multiple pterygium syndrome: expression in a heterozygote of the recessive form or variability of the dominant 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of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2008.065425","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:57:05Z","timestamp":1760738225000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2008.065425"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,3]]},"references-count":21,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2009,5,1]]},"published-print":{"date-parts":[[2009,5]]}},"alternative-id":["10.1136\/jmg.2008.065425"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2008.065425","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,3]]}}}