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Eur J Dermatol. 2008 Jul-Aug;18(4):391-3. doi: 10.1684/ejd.2008.0433. Epub 2008 Jun 23.

Two novel EBP mutations in Conradi-Hünermann-Happle syndrome.

Author information

  • 1Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of Medicine, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

Abstract

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.

PMID:
18573709
[PubMed - indexed for MEDLINE]
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