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 i...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 emopamilbinding 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.展开更多
文摘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 emopamilbinding 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.
