Wole-exome sequencing identifies ECPAS as a novel potentially pathogenic gene in multiple hereditary families with nonsyndromic orofacial cleft |
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| Affiliation: | 1.Department of Orthodontics,Peking University School and Hospital of Stomatology,Beijing 100081,China;Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research,College of Stomatology,Xi'an Jiaotong University,Xi'an 710049,China;2.Department of Orthodontics,Peking University School and Hospital of Stomatology,Beijing 100081,China;College of Stomatology,Chongqing Medical University;Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences;Chongqing Municipal Key Laboratory of Oral Biomedical Engineering of Higher Education,Chongqing 400016,China;3.Department of Orthodontics,Peking University School and Hospital of Stomatology,Beijing 100081,China;Department of Orthodontics,Stomatological Center,Peking University Shenzhen Hospital,Shenzhen Peking University-The Hong Kong University of Science and Technology Medical Center,Shenzhen 518036,China;4.Affiliated Hospital of Guangdong Medical University & Zhanjiang Key Laboratory of Zebrafish Model for Development and Disease,Guangdong Medical University,Zhanjiang 524023,China;5.Department of Orthodontics,Peking University School and Hospital of Stomatology,Beijing 100081,China;National Center of Stomatology,National Clinical Research Center for Oral Diseases,National Engineering Laboratory for Digital and Material Technology of Stomatology,Beijing Key Laboratory for Digital Stomatology,Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health,NMPA Key Laboratory for Dental Materials,Beijing 100191,China;6.Department of Orthodontics,Peking University School and Hospital of Stomatology,Beijing 100081,China;7.National Center of Stomatology,National Clinical Research Center for Oral Diseases,National Engineering Laboratory for Digital and Material Technology of Stomatology,Beijing Key Laboratory for Digital Stomatology,Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health,NMPA Key Laboratory for Dental Materials,Beijing 100191,China;Central Laboratory,Peking University School and Hospital of Stomatology,Beijing 100081,China;8.National Center of Stomatology,National Clinical Research Center for Oral Diseases,National Engineering Laboratory for Digital and Material Technology of Stomatology,Beijing Key Laboratory for Digital Stomatology,Research Center of Engineering and Technology for Computerized Dentistry Ministry of Health,NMPA Key Laboratory for Dental Materials,Beijing 100191,China;Department of Oral and Maxillofacial Surgery,Peking University School and Hospital of Stomatology,Beijing 100191,China;9.The Second Affiliated Hospital of Xinjiang Medical University and Xinjiang Key Laboratory of Neurological Disorder Research,Urumqi 830028,China;10.Department of Physiology and Pathophysiology,School of Basic Medical Sciences,Xi'an Jiaotong University,Xi'an 710049,China;11.Innovation Centre of Ministry of Education for Development and Diseases,Sixth Affiliated Hospital,School of Medicine,South China University of Technology,Guangzhou 511442,China |
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| Abstract: | Dear Editor,Orofacial cleft(OFC),which includes cleft lip and/or pal-ate(CL/P)and cleft palate(CP),is the most common con-genital craniofacial structural disorder,with a prevalence of 1.416‰ among live infants worldwide(Massenburg et al.,2021).Nonsyndromic OFC(NSOFC),which does not contain other malformations as syndromic OFC(SOFC),accounts for 70％of cases and is believed to have complex etiologies.Notably,it has been established that genetic factors play a crucial role in the occurrence of NSOFC(Dixon et al.,2011). |
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| Keywords: | novel gene with cleft ecpas families hereditary identifies |
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