{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T15:27:25Z","timestamp":1780327645635,"version":"3.54.1"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,11,5]],"date-time":"2013-11-05T00:00:00Z","timestamp":1383609600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2014,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Cerebrofaciothoracic dysplasia (CFT) (OMIM #213980) is a multiple congenital anomaly and intellectual disability syndrome involving the cranium, face, and thorax. The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT\/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cleft palate, low\u2010set, posteriorly rotated ears, short neck, and multiple costal and vertebral anomalies. The underlying genetic defect remains unknown. Using combination of homozygosity mapping and whole\u2010exome sequencing, we identified a homozygous nonsense founder mutation, p.Arg87Ter (c.259 C&gt;T), in the human transmembrane and coiled\u2010coil domains protein 1 (<jats:italic>TMCO1<\/jats:italic>) in four out of five families of Turkish origin. The entire critical region on chromosome 1q24 containing <jats:italic>TMCO1<\/jats:italic> was excluded in the fifth family with characteristic findings of CFT providing evidence for genetic heterogeneity of CFT spectrum. Another founder <jats:italic>TMCO1<\/jats:italic> mutation has recently been reported to cause a unique genetic condition, TMCO1\u2010defect syndrome (OMIM #614132). TMCO1\u2010defect syndrome shares many features with CFT. This study supports the fact that \u201cTMCO1\u2010defect syndrome,\u201d initially thought to represent a distinct disorder, indeed belongs to the genetically heterogeneous CFT dysplasia spectrum. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36248","type":"journal-article","created":{"date-parts":[[2013,11,5]],"date-time":"2013-11-05T21:00:19Z","timestamp":1383685219000},"page":"291-304","source":"Crossref","is-referenced-by-count":30,"title":["TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia"],"prefix":"10.1002","volume":"164","author":[{"given":"Yasemin","family":"Alanay","sequence":"first","affiliation":[{"name":"Department of Pediatrics Pediatric Genetics Hacettepe University Medical Faculty Ankara Turkey"},{"name":"Department of Pediatrics Pediatric Genetics Ac\u0131badem University Medical Faculty Istanbul 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