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 dif...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
2014
|
| Online Access: | http://www.scopus.com/inward/record.url?eid=2-s2.0-47749112385&partnerID=40&md5=9385034db273a38acee3c9a352a055f8 http://cmuir.cmu.ac.th/handle/6653943832/2403 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Institution: | Chiang Mai University |
| Language: | English |
| 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. |
|---|