Whole-Exome Sequencing Reveals a Recurrent D401N Mutation in the COMP gene that Causes Multiple Epiphyseal Dysplasia

Volume 1 - Issue 3

Jing Wang¹, Yuxian Wang², Meiling Chong³, Yaohong Hao⁴, Zhuoyu Li¹, Changxin Wu¹ and Han Xiao¹*

Received: April 25, 2018;   Published: May 07, 2018

DOI: 10.32474/PRJFGS.2018.01.000113

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Abstract

Multiple epiphyseal dysplasia (MED) is a rare osteochondrodysplasia characterized by moderate short limb dwarfism and earlyonset 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.

Keywords: MED; COMP; WES

Abbreviations: MED: Multiple Epiphyseal Dysplasia; WES: Whole-Exome Sequencing; GSDs: Genetic Skeletal Diseases

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