{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T19:07:36Z","timestamp":1768417656755,"version":"3.49.0"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,12,17]],"date-time":"2018-12-17T00:00:00Z","timestamp":1545004800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["WT098051"],"award-info":[{"award-number":["WT098051"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000272","name":"National Institute for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000272","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>Biallelic loss of function variants in the <jats:italic>TMCO1<\/jats:italic> gene have been previously demonstrated to result in cerebrofaciothoracic dysplasia (CFTD; MIM #213980). The phenotype of this condition includes severe intellectual disability, as well as distinctive craniofacial features, including brachycephaly, synophrys, arched eyebrows, \u201ccupid's bow\u201d upper lip, and microdontia. In addition, nonspecific skeletal anomalies are common, including bifid ribs, scoliosis, and spinal fusion. Only 19 molecularly confirmed patients have been previously described. Here, we present four patients with CFTD, including three brothers from a Pakistani background and an additional unrelated white Scottish patient. All share the characteristic craniofacial appearance, with severe intellectual disability and skeletal abnormalities. We further define the phenotype with comparison to the published literature, and present images to define the dysmorphic features in a previously unreported ethnic group. All of our patient series are homozygous for the same c.292_293del (p.Ser98*) <jats:italic>TMCO1<\/jats:italic> pathogenic variant, which has been previously reported only in an isolated Amish population. Thus we provide evidence that CFTD may be more common than previously thought. The patients presented here further delineate the phenotypic spectrum of CFTD and provide evidence for a recurrent pathogenic variant in <jats:italic>TMCO1<\/jats:italic>.<\/jats:p>","DOI":"10.1002\/ajmg.a.60678","type":"journal-article","created":{"date-parts":[[2018,12,17]],"date-time":"2018-12-17T08:18:48Z","timestamp":1545034728000},"page":"43-49","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Cerebrofaciothoracic dysplasia: Four new patients with a recurrent <i>TMCO1<\/i> pathogenic variant"],"prefix":"10.1002","volume":"179","author":[{"given":"Thabo","family":"Michael Yates","sequence":"first","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust  Sheffield United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oon\u2010Hui","family":"Ng","sequence":"additional","affiliation":[{"name":"Ninewells Hospital and Medical School University of Dundee  Dundee United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amaka C.","family":"Offiah","sequence":"additional","affiliation":[{"name":"Academic Unit of Child Health University of Sheffield  Sheffield United Kingdom"},{"name":"Radiology Department Sheffield Children's NHS Foundation Trust  Sheffield United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8185-5849","authenticated-orcid":false,"given":"Josh","family":"Willoughby","sequence":"additional","affiliation":[{"name":"Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust  Sheffield United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan N.","family":"Berg","sequence":"additional","affiliation":[{"name":"Dundee Clinical Genetics Service Ninewells Hospital and Medical School  Dundee United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"DDD Study","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana S.","family":"Johnson","sequence":"additional","affiliation":[{"name":"Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust  Sheffield United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,12,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ajmg.a.36248","article-title":"TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia","volume":"164","author":"Alanay Y.","year":"2013","journal-title":"American Journal of Medical Genetics Part A"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12088"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature19057"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.291"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.04.051"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(14)61705-0"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0908457107"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.60678","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.60678","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,14]],"date-time":"2023-09-14T11:22:15Z","timestamp":1694690535000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.60678"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,17]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,1]]}},"alternative-id":["10.1002\/ajmg.a.60678"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.60678","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,17]]},"assertion":[{"value":"2018-06-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-10-14","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}