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Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
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Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
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Journal Article
Diagnosis with Multiple Epiphyseal Dysplasia Using Whole-exome Sequencing in a Chinese Family
2017
Overview
Multiple epiphyseal dysplasia （MED; EDMI, 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, COL9A 1, COL9A2, COL9A3, MATN3, DTDST）.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.
Publisher
Wolters Kluwer India Pvt. Ltd,Medknow Publications and Media Pvt. Ltd,Lippincott Williams & Wilkins Ovid Technologies,Department of Medical Genetics Institute, People's Hospital of Zhengzhou University(Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China%McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100005, China%Department of Gynecology and Obstetrics, People's Hospital of Zhengzhou University(Henan Provincial People's Hospital), Zhengzhou, Henan 450003, China,Medknow Publications & Media Pvt Ltd,Wolters Kluwer
Subject
/ Age
/ Analysis
/ Asian Continental Ancestry Group
/ DNA
/ Female
/ Gangrene
/ Genes
/ Genetic Predisposition to Disease - genetics
/ Genetics
/ Genomes
/ Humans
/ Male
/ Mutation
/ Osteochondrodysplasias - diagnosis
/ Osteochondrodysplasias - genetics
/ Pain
/ Pedigree
/ 中国
/ 发育不良
/ 外显子
/ 多发性
/ 家庭
/ 测序
/ 致病基因
/ 诊断
