{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T16:26:19Z","timestamp":1772382379738,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2015,4,6]],"date-time":"2015-04-06T00:00:00Z","timestamp":1428278400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"US National Human Genome Research Institute (NHGRI)\/National Heart Lung and Blood Institute (NHLBI)","award":["U54HG006542"],"award-info":[{"award-number":["U54HG006542"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:sec><jats:label\/><jats:p>Oral\u2010facial\u2010digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished from other oral\u2010facial\u2010digital syndromes by metacarpal abnormalities with central polydactyly and by a molar tooth sign on cranial MRI. Additional characteristic features include short stature, micrognathia, posteriorly rotated low\u2010set ears, hypertelorism, epicanthal folds, broad nasal tip, tongue hamartoma, upper lip notch, intraoral frenula, cleft lip\/palate, and renal anomalies. Recently, novel mutations in <jats:italic>C5orf42<\/jats:italic> were identified in 9 out of 11 OFDVI families. In a subsequent study <jats:italic>C5orf42<\/jats:italic> was found to be mutated in only 2 out of 17 OFDVI probands while 28 patients with a pure JS phenotype also had pathogenic mutations of <jats:italic>C5orf42<\/jats:italic>.<\/jats:p><jats:p>We report on two affected cousins diagnosed with OFDVI who were born from first degree cousin marriages. Whole exome sequencing (WES) identified a homozygous predicted damaging missense mutation (c.4034A\u2009&gt;\u2009G; p.Gln1345Arg) in the <jats:italic>C5orf42<\/jats:italic> gene. Our data contribute to the evidence that <jats:italic>C5orf42<\/jats:italic> is one of the causative genes for OFDVI. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37092","type":"journal-article","created":{"date-parts":[[2015,4,6]],"date-time":"2015-04-06T14:24:40Z","timestamp":1428330280000},"page":"2132-2137","source":"Crossref","is-referenced-by-count":14,"title":["Exome sequencing identifies a homozygous <i>C5orf42<\/i> variant in a Turkish kindred with oral\u2010facial\u2010digital syndrome type VI"],"prefix":"10.1002","volume":"167","author":[{"given":"Yavuz","family":"Bayram","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatip","family":"Aydin","sequence":"additional","affiliation":[{"name":"Center of Genetics Diagnosis Zeynep Kamil Women's and Children's Diseases Training and Research Hospital 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R.","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Department of Pediatrics Baylor College of Medicine Houston Texas"},{"name":"Texas Children's Hospital Houston 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