Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.
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.
Ausavarat
Surasawadee
S
Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.
Tanpaiboon
Pranoot
P
Tongkobpetch
Siraprapa
S
Suphapeetiporn
Kanya
K
Shotelersuk
Vorasuk
V
D000293:Adolescent; D000328:Adult; D002806:Chondrodysplasia Punctata / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D013251:Steroid Isomerases / Q000235:genetics*; D013785:Thailand
D013251:Steroid Isomerases; C090445:EBP protein, human