A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.

ABSTRACT: BACKGROUND:Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant MED (AD-MED) cases are caused by COMP mutations. METHODS:We recruited a four-generation Chinese family with early-onset hip osteoarthritis, flatfoot, brachydactyly, and mild short stature. An assessment of the family history, detailed physical examinations, and radiographic evaluations were performed on the proband and other family members, followed by the performance of whole-exome sequencing (WES). The pathogenicity of the candidate mutation was also analyzed. RESULTS:An AD-MED family with 10 affected members and 17 unaffected members was recruited. The main radiographic f

SUBMITTER: Shao J 

PROVIDER: S-EPMC7251693 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature