{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T03:54:05Z","timestamp":1783396445250,"version":"3.54.6"},"reference-count":40,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2018,7,9]],"date-time":"2018-07-09T00:00:00Z","timestamp":1531094400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7182184"],"award-info":[{"award-number":["7182184"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Cleft lip and\/or palate (<jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/P) is the most common craniofacial congenital disease, and it has a complex aetiology. This study aimed to identify the causative gene mutation of a Han Chinese family with <jats:styled-content style=\"fixed-case\">CL<\/jats:styled-content>\/P.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and Methods<\/jats:title><jats:p>Whole exome sequencing was conducted on the proband and her mother, who exhibited the same phenotype. A Mendelian dominant inheritance model, allele frequency, mutation regions, functional prediction and literature review were used to screen and filter the variants. The candidate was validated by Sanger sequencing. Conservation analysis and homology modelling were conducted.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A heterozygous missense mutation c.1175C&gt;T in the <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> gene predicting p.Ala392Val was identified. This variant has not been reported and was predicted to be deleterious. Sanger sequencing verified the variant and the dominant inheritance model in the family. The missense alteration affects an amino acid that is evolutionarily conserved in the first extracellular loop of the <jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1 protein. The local structure of the mutant protein was significantly altered according to homology modelling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings suggest that c.1175C&gt;T in <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" ext-link-type=\"DDBJ\/EMBL\/GenBank\" xlink:href=\"NM_000264\">NM_000264<\/jats:ext-link>) may be the causative mutation of this pedigree. Our results add to the evidence that <jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic> variants play a role in the pathogenesis of orofacial clefts.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12915","type":"journal-article","created":{"date-parts":[[2018,6,16]],"date-time":"2018-06-16T13:39:05Z","timestamp":1529156345000},"page":"1318-1325","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["A novel <i><scp>PTCH<\/scp>1<\/i> mutation underlies nonsyndromic cleft lip and\/or palate in a Han Chinese family"],"prefix":"10.1111","volume":"24","author":[{"given":"Huaxiang","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Orthodontics Peking University School and Hospital of Stomatology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjie","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Peking University School and Hospital of Stomatology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuntao","family":"Leng","sequence":"additional","affiliation":[{"name":"Department of Stomatology The Fifth Affiliated Hospital of Xinjiang Medical University  Urumqi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jieni","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Peking University School and Hospital of Stomatology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengqi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Peking University School and Hospital of Stomatology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenbin","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Peking University School and Hospital of Stomatology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunfan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Peking University School and Hospital of Stomatology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiran","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Peking University School and Hospital of Stomatology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peizeng","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Peking University School and Hospital of Stomatology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiuxiang","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Orthodontics Peking University School and Hospital of Stomatology  Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulibaha","family":"Maimaitili","sequence":"additional","affiliation":[{"name":"Department of Stomatology The Fifth Affiliated Hospital of Xinjiang Medical University  Urumqi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3041-9569","authenticated-orcid":false,"given":"Feng","family":"Chen","sequence":"additional","affiliation":[{"name":"Central Laboratory Peking University School and Hospital of Stomatology  Beijing 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