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Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi–Hünermann–Happle syndrome
Author(s) -
Shotelersuk V.,
Tongkobpetch S.
Publication year - 2005
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/j.1365-2230.2005.01775.x
Subject(s) - frameshift mutation , gene , chondrodysplasia punctata , genetics , mutation , medicine , biology
Summary Conradi–Hünermann–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 emopamil‐binding 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.