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Identification of rare PTCH1 nonsense variant causing orofacial cleft in a Chinese family and an up-to-date genotype- phenotype analysis

引用

Genes & Diseases 2021年第5期8卷 689-697页

作者： Wenjie Zhong Huaxiang Zhao Wenbin Huang Mengqi Zhang Qian Zhang Yue Zhang Chong Chen Zulihumaer Nueraihemaiti Dilifeire Tuerhong Huizhe Huang Gulibaha Maimaitili Feng Chen Jiuxiang Lin Department of Orthodontics Peking University School and Hospital of StomatologyBeijing100081PR China Central Laboratory Peking University School and Hospital of StomatologyBeijing100081PR China Department of Stomatology The Fifth Affiliated Hospital of Xinjiang Medical UniversityUrumqi830000PR China Xinjiang Medical University Urumqi830000PR China Chongqing Medical University Chongqing400016PR China Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research Department of Orthodontics College of StomatologyXi’an Jiaotong UniversityXi’an 710004PR China

The Patched 1(PTCH1)gene encodes a membrane receptor involved in the Hedge-hog(Hh)signaling pathway,an abnormal state of which may result in congenital defects or hu-man *** this study,we conducted whole-exome sequencing on a three-generation Chinese family characterized with variable penetrance of orofacial clefts.A rare heterozygous variant in the PTCH1 gene(c.2833C>T p.R945X)was identified as a disease-associated *** modeling revealed a truncation starting from the middle of the second extracellular domain of PTCH1 *** may damage its ligand recognition and sterol transportation abilities,thereby affecting the Hh signaling *** assays indi-cated that the R945X protein had reduced stability compared to the wild-type in *** addi-tion,we reviewed the locations and mutation types of PTCH1 variants in individuals with clefting phenotypes,and analyzed the associations between clefts and locations or types of variants within *** findings provide further evidence that PTCH1 variants result in or-ofacial clefts,and contributed to genetic counseling and clinical surveillance in this family.

关键词： cleft lip with or without palate Clinical genetics Genotype-phenotype analysis PTCH1 Whole-exome sequencing

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