{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T11:39:05Z","timestamp":1773056345449,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","license":[{"start":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T00:00:00Z","timestamp":1604448000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Medicine"],"published-print":{"date-parts":[[2020,11,4]]},"abstract":"<jats:p>Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly or periventricular hypertopia. Here, we report a new case of a TMTC3-related syndrome in a Lebanese family with two affected siblings showing severe psychomotor retardation, intellectual disability, microcephaly, absence of speech, muscular hypotonia, and seizures. Whole exome sequencing revealed a homozygous pathogenic variant c.211 C\u2009&gt;\u2009T (p.R71C) in the TMTC3 gene in both siblings. A review of the literature on TMTC3-related syndrome and its causal mutations is provided.<\/jats:p>","DOI":"10.1155\/2020\/7163038","type":"journal-article","created":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T02:13:03Z","timestamp":1604542383000},"page":"1-6","source":"Crossref","is-referenced-by-count":5,"title":["A Report on a Family with TMTC3-Related Syndrome and Review"],"prefix":"10.1155","volume":"2020","author":[{"given":"Sayeeda","family":"Hana","sequence":"first","affiliation":[{"name":"Centre for Arab Genomic Studies, Dubai, United Arab Emirates, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deepak","family":"karthik","sequence":"additional","affiliation":[{"name":"Genetic Intelligence Laboratory, Weill Cornell Medicine-Qatar, Qatar Foundation, Doha, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingxuan","family":"Shan","sequence":"additional","affiliation":[{"name":"Genetic Intelligence Laboratory, Weill Cornell Medicine-Qatar, Qatar Foundation, Doha, Qatar"},{"name":"Department of Genetic Medicine, Weill Cornell Medicine, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephany","family":"El Hayek","sequence":"additional","affiliation":[{"name":"Centre for Arab Genomic Studies, Dubai, United Arab Emirates, Qatar"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2082-7924","authenticated-orcid":true,"given":"Lotfi","family":"Chouchane","sequence":"additional","affiliation":[{"name":"Genetic Intelligence Laboratory, Weill Cornell Medicine-Qatar, Qatar Foundation, Doha, Qatar"},{"name":"Department of Genetic Medicine, Weill Cornell Medicine, New York, NY, USA"},{"name":"Department of Microbiology and Immunology, Weill Cornell Medicine, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0714-2469","authenticated-orcid":true,"given":"Andr\u00e9","family":"Megarbane","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Gilbert and Rose-Marie Ghagoury School of Medicine, Lebanese American University, Byblos, Lebanon"},{"name":"Institut J\u00e9r\u00f4me Lejeune, Paris, France"},{"name":"Faculty of Medical Sciences, Lebanese University, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1708319114"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0019321"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.09.007"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx316"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky1016"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btm404"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0160519"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E19-07-0408"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1186\/s40246-019-0215-5"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13463"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12654"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1586\/14737159.2015.1039516"}],"container-title":["Case Reports in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2020\/7163038.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2020\/7163038.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2020\/7163038.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,12,3]],"date-time":"2020-12-03T08:57:12Z","timestamp":1606985832000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crim\/2020\/7163038\/"}},"subtitle":[],"editor":[{"given":"Mark E.","family":"Shaffrey","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2020,11,4]]},"references-count":13,"alternative-id":["7163038","7163038"],"URL":"https:\/\/doi.org\/10.1155\/2020\/7163038","relation":{},"ISSN":["1687-9635","1687-9627"],"issn-type":[{"value":"1687-9635","type":"electronic"},{"value":"1687-9627","type":"print"}],"subject":[],"published":{"date-parts":[[2020,11,4]]}}}