A custom-designed panel sequencing study in 201 Chinese patients with craniosynostosis revealed novel variants and distinct mutation spectra  

作　　者：Yingzhi Wu Meifang Peng Jieyi Chen Jinlong Suo Sihai Zou Yanqing Xu Andrew O.M.Wilkie Weiguo Zou Xiongzheng Mu Sijia Wang 

机构地区：[1]Department of Plastic Surgery,Huashan Hospital,Fudan University,Shanghai 200040,China [2]State Key Laboratory of Genetic Engineering at School of Life Sciences,Fudan University,Shanghai 200011,China [3]CAS Key Laboratory of Computational Biology,CAS-MPG Partner Institute for Computational Biology,Shanghai Institute of Nutrition and Health,University of Chinese Academy of Sciences,Chinese Academy of Sciences,Shanghai 200031,China [4]The State Key Laboratory of Cell Biology,CAS Center for Excellence in Molecular Cell Science,Shanghai Institute of Biochemistry and Cell Biology,Chinese Academy of Sciences,University of Chinese Academy of Sciences,Shanghai 200031,China [5]Department of Oral and Maxillofacial Surgery,Affiliated Hospital of Stomatology,Chongqing Medical University,Chongqing 401147,China [6]Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences,Chongqing 401147,China [7]Forest Ridge School of the Sacred Heart,Bellevue,WA 98006,USA [8]MRC Weatherall Institute of Molecular Medicine,University of Oxford,John Radcliffe Hospital,Oxford 0X39DS,UK [9]Center for Excellence in Animal Evolution and Genetics,Chinese Academy of Sciences,Kunming 650223,China

出　　处：《Journal of Genetics and Genomics》2021年第2期167-171,共5页遗传学报（英文版）

基　　金：supported by the foundation of Shanghai municipal commission of Health and Family Planning(20174Y0088);the Shanghai Municipal Science and Technology Major Project(2017SHZDZX01);the CAS Interdisciplinary Innovation Team Project;the NIHR Oxford Biomedical Research Centre Programme。

摘　　要：Craniosynostosis is a rare disease in which one or more of the cranial sutures in an infant skull prematurely fuses by turning into bone,with a prevalence of 1 in 2,000—2,500 individuals from reports in Western countries(Wilkie et al.,2017).It may restrict the growth of the brain,leading to some degree of morphological and functional abnormalities,and may affect the neurocognitive function of infants(Lattanzi et al.,2017).Genetic variants underlying craniosynostosis have been identified in cohort studies in Western populations.

关 键 词：patients TURNING 

分 类 号：R741[医药卫生—神经病学与精神病学]