Whole-Exome Sequencing Reveals a Recurrent D401N Mutation in the COMP gene that Causes Multiple Epiphyseal Dysplasia
Journal Title: Peer Reviewed Journal of Forensic & Genetic Sciences - Year 2018, Vol 1, Issue 3
Abstract
Multiple epiphyseal dysplasia (MED) is a rare osteochondrodysplasia characterized by moderate short limb dwarfism and early-onset osteoarthrosis. By whole-exome sequencing (WES), we identified a dominantly inherited mutation (c.1201G>A; p.D401N) in cartilage oligomeric matrix protein (COMP) in a large four-generation Chinese family. Immunofluorescence analysis revealed mutant COMP secretion was severely impaired. Our result expands the mutational spectrum of COMP and provides strong evidence for the genotype-phenotype correlation of COMP pathogenicity in MED. Citation: Jing WANG, Yuxian WANG, Meiling CHONG, Yaohong HAO, Zhuoyu Ll, et al. Whole-Exome Sequencing Reveals a Recurrent D401N Mutation in the COMP gene that Causes Multiple Epiphyseal Dysplasia. Peer Rev J Foren & Gen Sci 1(3)- 2018.PRJFGS.MS.ID.000113. DOI: 10.32474/PRJFGS.2018.01.00011344IntroductionHuman genetic skeletal diseases (GSDs) are an extremely diverse and COMPlex group of rare genetic condition that primarily affect the development and homeostasis of the osseous skeleton. GSDs not only cause patients in pain and disability, but also bring poor quality of life and high healthcare costs. According to the 2015 Nosology and Classification of the GSDs, there are 436 well-characterized skeletal diseases that are classified primarily on the basis of clinical, radiographic, and molecular criteria.
Authors and Affiliations
Han Xiao, Jing Wang, Zhuoyu Li, Changxin Wu, Yuxian Wang, Meiling Chong, Yaohong Hao
Keywords
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- EP ID EP637576
- DOI 10.32474/PRJFGS.2018.01.000113
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