Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, Sor Kor Building 11th floor, King Chulalongkorn Memorial Hospital, Bangkok 10330, Thailand, Inter-Department Program of Biomedical Science, Graduate School, Chulalongkorn University, Bangkok, Thailand, Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
- Mots-clés : Conradi-Hünermann-Happle, chondrodysplasia punctata type 2, EBP
- DOI : 10.1684/ejd.2008.0433
- Page(s) : 391-3
- Année de parution : 2008
Conradi-Hünermann-Happle syndrome, also known as chondrodysplasia punctata type 2 (CDPX2), is an X-linked dominant disorder characterized by skin defects, skeletal and ocular abnormalities. CDPX2 was shown to be caused by mutations in the gene encoding emopamil binding protein (EBP). At least 58 different mutations have been described. Here we present clinical and molecular findings in two unrelated Thai girls with CDPX2. Mutation analysis by PCR-sequencing the entire coding region of EBP successfully revealed two potentially pathogenic, novel mutations, c.616G→T and c.382delC. This study has expanded the spectrum of the EBP gene mutations causing CDPX2.