Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hunermann-Happle syndrome.

摘要

Summary Conradi-Hunermann-Happle syndrome, also known as X-linked dominant chondrodysplasia punctata (CDPX2), is characterized by skeletal abnormalities, cutaneous anomalies and cataracts. CDPX2 is caused by mutations in the emopamil-binding protein (EBP). We report two unrelated Thai female patients with clinically typical CDPX2, in which we discovered two novel and de novo frameshift mutations: 506-507delAG and 540-541delCC. This study demonstrates that EBP is the gene responsible for CDPX2 across different populations and extends the total number of confirmed mutations to 55.