{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:10:11Z","timestamp":1761718211665},"reference-count":25,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,2]]},"abstract":"<jats:p>Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N. Exome sequencing in a family with an X\u2010linked lethal malformation syndrome: clinical consequences of hemizygous truncating <jats:italic>OFD1<\/jats:italic> mutations in male patients.<\/jats:p><jats:p>Oral\u2010facial\u2010digital syndrome type 1 (OFD1; OMIM #311200) is an X\u2010linked dominant disorder, caused by heterozygous mutations in the <jats:italic>OFD1<\/jats:italic> gene and characterized by facial anomalies, abnormalities in oral tissues, digits, brain, and kidney; and male lethality in the first or second trimester pregnancy. We encountered a family with three affected male neonates having an \u2018unclassified\u2019 X\u2010linked lethal congenital malformation syndrome. Exome sequencing of entire transcripts of the whole X chromosome has identified a novel splicing mutation (c.2388+1G &gt; C) in intron 17 of <jats:italic>OFD1<\/jats:italic>, resulting in a premature stop codon at amino acid position 796. The affected males manifested severe multisystem complications in addition to the cardinal features of OFD1 and the carrier female showed only subtle features of OFD1. The present patients and the previously reported male patients from four families (clinical OFD1; Simpson\u2010Golabi\u2010Behmel syndrome, type 2 with an <jats:italic>OFD1<\/jats:italic> mutation; Joubert syndrome\u201010 with <jats:italic>OFD1<\/jats:italic> mutations) would belong to a single syndrome spectrum caused by truncating OFD1 mutations, presenting with craniofacial features (macrocephaly, depressed or broad nasal bridge, and lip abnormalities), postaxial polydactyly, respiratory insufficiency with recurrent respiratory tract infections in survivors, severe mental or developmental retardation, and brain malformations (hypoplasia or agenesis of corpus callosum and\/or cerebellar vermis and posterior fossa abnormalities).<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01885.x","type":"journal-article","created":{"date-parts":[[2012,4,3]],"date-time":"2012-04-03T14:32:24Z","timestamp":1333463544000},"page":"135-144","source":"Crossref","is-referenced-by-count":25,"title":["Exome 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