Genetic Analysis of Familial Developmental Dysplasia of the Hip Associated With a Heterozygous Variant in the COMP Gene: A Case Report.

ABSTRACT:

Background

Developmental dysplasia of the hip (DDH) is a prevalent congenital musculoskeletal disorder characterized by structural abnormalities of the hip joint. While its etiology involves genetic and environmental factors, specific genetic mechanisms remain poorly understood. Mutations in the COMP gene (COMP; OMIM: 600310), classically associated with skeletal dysplasias such as pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), are rarely linked to isolated DDH.

Methods

A 29-year-old male proband with familial DDH underwent clinical evaluation and radiographic imaging. Whole-exome sequencing (WES) was performed on the proband and his parents, followed by Sanger sequencing to validate variants in affected family members. Pathogenicity was assessed using

SUBMITTER: Miao Y 

PROVIDER: S-EPMC12455682 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature