Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family

二维码有效期 120s

摘要INTRODUCTIONMultiple epiphyseal dysplasia (MED;EDM1,OMIM 132400;EDM2,OMIM 600204;EDM3,OMIM 600969;EDM4,OMIM 226900;EDM5,OMIM 607078;EDM6,OMIM 614135) is an autosomal dominant inherited disease of the skeletal system,characterized by mild short stature and early-onset degenerative joint disease,caused by heterogeneous genotypes involving more than six genes (COMP,COL9A1,COLgA2,COLgA3,MATN3,DTDST).[1] However,in approximately 10-20％ of all samples analyzed,a mutation cannot be identified in any of the six genes mentioned above,suggesting that the presence of other unidentified causative genes is also involved in the pathogenesis of MED.

作者单位 Department of Medical Genetics Institute, People's Hospital of Zhengzhou University(Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China ^[1] McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100005, China ^[2] Department of Gynecology and Obstetrics, People's Hospital of Zhengzhou University(Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China ^[3]

关键词 Avascular Necrosis of the Femoral Head Cartilage Oligomeric Matrix Protein Collagen Type Ⅱ Alpha 1 Differential Diagnosis Whole-exome Sequencing

栏目名称

Short Communication

DOI 10.4103/0366-6999.196568

发布时间 2017-02-24

基金项目

This study was supported in part by grants from the Young Scientists Foundation of China（81501336）； the Foundation and Cutting-Edge Research Projects of Henan Province Science and Technology Department（132300410377）； the Medical Science and Technology Research Projects of Henan Provincial Health Bureau（201601019,201302021）

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