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Two novel EBP mutations in Conradi-Hünermann-Happle syndrome
European Journal of Dermatology. Volume 18, Number 4, 391-3, July-August 2008, Genes and skin
Free Article
Author(s) : Surasawadee Ausavarat, Pranoot Tanpaiboon, Siraprapa Tongkobpetch, Kanya Suphapeetiporn, Vorasuk Shotelersuk
Summary : 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.
Keywords : Conradi-Hünermann-Happle, chondrodysplasia punctata type 2, EBP

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome