Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

查看全文 作　　者：Xin [1]Fan;Sen [2,3]Zhao;Chenxi [2,3]Yu;Di [4]Wu;Zihui [2,3]Yan;Lijun [4]Fan;Yanning [4]Song;Yi [4]Wang;Chuan [5,6]Li;Yue [7]Ming;Baoheng [1]Gui;Yuchen [8]Niu;Xiaoxin [8]Li;Xinzhuang [8]Yang;Shiyu [3]Luo;Qiang [6]Zhang;Xiuli [9]Zhao;Hui [10]Pan;Mei [11]Li;Weibo [11]Xia;Guixing [2,3,12]Qiu;Pengfei [2,12]Liu;Shuyang [3,13]Zhang;Jianguo [2,11]Zhang;Zhihong [3,8,11]Wu;James [14,15,16,17]R.Lupski;Jennifer [14]E.Posey;Shaoke [1]Chen;Chunxiu [4]Gong;Nan [2,3,11,14]Wu

机构地区：[1]Department of Pediatrics,The Second Affiliated Hospital of Guangxi Medical University,Guangxi 530003,China;[2]Department of Orthopedic Surgery,State Key Laboratory of Complex Severe and Rare Diseases,Peking Union Medical College Hospital,Peking Union Medical College and Chinese Academy of Medical Sciences,Beijing 100730,China;[3]Beijing Key Laboratory for Genetic Research of Skeletal Deformity,Beijing 100730,China;[4]Department of Endocrinology,Genetics and Metabolism,Beijing Children's Hospital,Capital Medical University,National Center for Children's Health,Beijing 100045,China;[5]Department of Pediatric Endocrine and Metabolism,Maternal and Child Health Hospital of Guangxi,Nanning,Guangxi 530003,China;[6]Laboratory of Genetics and Metabolism,Maternal and Child Health Hospital of Guangxi,Nanning,Guangxi 530003,China;[7]PET-CT Center,National Cancer Center/Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100730,China;[8]Medical Research Center,Peking Union Medical College Hospital,Peking Union Medical College and Chinese Academy of Medical Sciences,Beijing 100730,China;[9]Department of Medical Genetics,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences&School of Basic Medicine,Peking Union Medical College,Beijing 100005,China;[10]Department of Endocrine and Metabolism,Peking Union Medical College Hospital,Peking Union Medical College and Chinese Academy of Medical Sciences,Beijing 100730,China;[11]Key Laboratory of Big Data for Spinal Deformities,Chinese Academy of Medical Sciences,Beijing 100730,China;[12]Baylor Genetics,Houston,TX 77021,USA;[13]Department of Cardiology,Peking Union Medical College Hospital,Peking Union Medical College and Chinese Academy of Medical Sciences,Beijing 100730,China;[14]Department of Molecular and Human Genetics,Baylor College of Medicine,Houston,TX 77030,USA;[15]Departments of Pediatrics,Baylor College of Medicine,Houston,TX 77030,USA;[16]Texas Children's Hospital,Houston,TX 77030,USA;[17]Human Genome Sequencing Center,Baylor College of Medicine,Houston,TX 77030,USA

出　　处：《Journal of Genetics and Genomics》索引2021年第48卷第5期,共7页

基　　金：funded in part by the Beijing Natural Science Foundation(JQ20032 to N.W.and to 7191007 to Z.W.);National Natural Science Foundation of China(81822030 and 82072391 to N.W.,81772299and 81930068 to Z.W.,81772301 and 81972132 to G.Q.,81672123and 81972037 to J.Z.);Capital's Funds for Health Improvement and Research(2020-4-40114 to N.W.);Tsinghua University-Peking Union Medical College Hospital Initiative Scientific Research Program;National Key Research and Development Program of China(2018YFC0910500 to N.W.and Z.W.,2016YFC0901501 to S.Z.);the PUMC Youth Fund and the Fundamental Research Funds for the Central Universities(3332019052 to Y.M.);the CAMS Initiative Fund for Medical Sciences(2016-I2M-3-003 to G.Q.and N.W.,2016-I2M-2-006 and 2017-I2M-2-001 to Z.W.);the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences(2019PT320025 to N.W.);sponsored by GeneScience Pharmaceuticals Co.,Ltd.(Changchun,China);funded by the United States National Institutes of Health(UM1HG006542 and K08 HG008986)。 摘　　要：Short stature is among the most common endocrinological disease phenotypes of childhood and may occur as an isolated finding or in conjunction with other clinical manifestations.Although the diagnostic utility of clinical genetic testing in short stature has been implicated,the genetic architecture and the utility of genomic studies such as exome sequencing(ES)in a sizable cohort of patients with short stature have not been investigated systematically.In this study,we recruited 561 individuals with short stature from two centers in China during a 4-year period.We performed ES for all patients and available parents.All patients were retrospectively divided into two groups:an isolated short stature group(group I,n=257)and an apparently syndromic short stature group(group II,n=304).Causal variants were identified in 135 of 561(24.1%)patients.In group I,29 of 257(11.3%)of the patients were solved by variants in 24 genes.In group II,106 of 304(34.9%)patients were solved by variants in 57 genes.Genes involved in fundamental cellularprocess played an important role in the genetic architecture of syndromic short stature.Distinct genetic architectures and pathophysiological processes underlie isolated and syndromic short stature. 关键词：Short stature Exome sequencing Molecular diagnosis VARIANTS Genes and growth

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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature

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