Mutation in the

Background: Developmental dysplasia of the hip (DDH) is one of the most common developmental disorders worldwide, caused by a combination of genetic and environmental factors. Methods: To investigate the genetic etiology of DDH in a proband (a 27-year-old male), we reviewed the patient's clinical data and collected peripheral blood samples from the proband and his parents. Genomic DNA was extracted, and polymerase chain reaction (PCR) amplification was performed. Clinical whole-exome sequencing (WES) using next-generation sequencing (NGS) was conducted to identify potential mutation sites, which were then validated through Sanger sequencing. Bioinformatics analysis was performed to assess the pathogenicity of the identified variant, and 3D protein modeling was conducted to predict its impact on protein structure. Results: The proband presented with pain in bilateral hips, and based on clinical symptoms, laboratory findings and imaging studies, the final diagnosis was considered to be acetabular dysplasia with overlapping secondary synovial chondromatosis. Family history revealed similar symptoms in the proband's father, while the grandparents and other family members were unaffected. The patient underwent bilateral total hip arthroplasty and synovectomy. NGS and Sanger sequencing identified a heterozygous missense mutation in the Conclusion: Our findings highlight the diagnostic utility of NGS in identifying precise genetic causes of DDH. The identification of the