{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T17:17:58Z","timestamp":1790788678632,"version":"4.1.0"},"reference-count":20,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2019,5,18]],"date-time":"2019-05-18T00:00:00Z","timestamp":1558137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100004807","name":"California Department of Fish and Game","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004807","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":[[2019,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The main clinical features of cerebro\u2010facio\u2010thoracic dysplasia (CFTD) syndrome, which were described over four decades ago, include facial dysmorphism, multiple malformations of the vertebrae and ribs, and intellectual disability. Recently, a <jats:italic>TMCO1<\/jats:italic> gene mutation was shown to be responsible for an autosomal recessive CFTD syndrome characterized by craniofacial dysmorphism, skeletal anomalies, and intellectual disability. In the current report, we describe two members of a consanguineous family from an Arab community in Israel who were clinically diagnosed as suffering from craniofacial dysmorphism, skeletal anomalies, intellectual disability, and epilepsy. Both affected siblings had behavioral difficulties such as anxiety and emotional instability with impulsive behaviors. Whole\u2010exome sequencing revealed a homozygous stop\u2010gain mutation NM_019026.4: c.616C\u2009&gt;\u2009T; p.(Arg206*) in exon 6 of the <jats:italic>TMCO1<\/jats:italic> gene. Bioinformatics analysis suggested a structural model for the TMCO1 protein and its homologues. The clinical features of our patients were compared with those of the only other five studies available in the literature. We conclude that this mutation in the <jats:italic>TMCO1<\/jats:italic> gene is responsible for the various clinical manifestations of CFTD syndrome exhibited by the patients studied that expand the phenotypic spectrum of the disease to include epilepsy as a characteristic feature of this syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61168","type":"journal-article","created":{"date-parts":[[2019,5,18]],"date-time":"2019-05-18T13:29:46Z","timestamp":1558186186000},"page":"1338-1345","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A novel biallelic loss\u2010of\u2010function mutation in <i>TMCO1<\/i> gene confirming and expanding the phenotype spectrum of cerebro\u2010facio\u2010thoracic dysplasia"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0483-3443","authenticated-orcid":false,"given":"Rajech","family":"Sharkia","sequence":"first","affiliation":[{"name":"Unit of Human Biology and Genetics The Triangle Regional Research and Development Center  Kafr Qara Israel"},{"name":"Unit of Nature Science Beit\u2010Berl Academic College  Beit\u2010Berl Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdelnaser","family":"Zalan","sequence":"additional","affiliation":[{"name":"Unit of Human Biology and Genetics The Triangle Regional Research and Development Center  Kafr Qara Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Azhar","family":"Jabareen\u2010Masri","sequence":"additional","affiliation":[{"name":"Unit of Human Biology and Genetics The Triangle Regional Research and Development Center  Kafr Qara Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holger","family":"Hengel","sequence":"additional","affiliation":[{"name":"German Research Center for Neurodegenerative Diseases (DZNE)  T\u00fcbingen Germany"},{"name":"Department of Neurodegenerative Diseases and Hertie\u2010Institute for Clinical Brain Research University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[{"name":"German Research Center for Neurodegenerative Diseases (DZNE)  T\u00fcbingen Germany"},{"name":"Department of Neurodegenerative Diseases and Hertie\u2010Institute for Clinical Brain Research University of T\u00fcbingen  T\u00fcbingen Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit","family":"Kessel","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Faculty of Life Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdussalam","family":"Azem","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Faculty of Life Sciences Tel\u2010Aviv University  Tel\u2010Aviv Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad","family":"Mahajnah","sequence":"additional","affiliation":[{"name":"Child Neurology and Development Center, Hillel\u2010Yaffe Medical Center  Hadera Israel"},{"name":"Rappaport Faculty of Medicine Technion \u2013 Israel Institute of Technology  Haifa Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,18]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36248"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2017.12.006"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.824"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12088"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.4161\/fly.19695"},{"key":"e_1_2_7_7_1","unstructured":"Garrison E. &Marth G.(2012).Haplotype\u2010based variant detection from short\u2010read sequencing.arXiv preprint arXiv:1207.3907."},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/19.1.163"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jbchem.a022435"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks493"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gki370"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp698"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1975.tb04673.x"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.291"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.3233\/TRD-180022"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.11.032"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pcbi.1005324"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0908457107"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/prot.24065"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-009-9573-8"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0089021"}],"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.61168","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61168","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61168","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T10:01:06Z","timestamp":1694340066000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,18]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2019,7]]}},"alternative-id":["10.1002\/ajmg.a.61168"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61168","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,18]]},"assertion":[{"value":"2018-08-01","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-11","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}