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...
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th-cmuir.6653943832-24032014-08-30T02:00:49Z Two novel EBP mutations in Conradi-Hünermann-Happle syndrome Ausavarat S. Tanpaiboon P. Tongkobpetch S. Suphapeetiporn K. Shotelersuk V. 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. 2014-08-30T02:00:49Z 2014-08-30T02:00:49Z 2008 Article 11671122 10.1684/ejd.2008.0433 18573709 EJDEE http://www.scopus.com/inward/record.url?eid=2-s2.0-47749112385&partnerID=40&md5=9385034db273a38acee3c9a352a055f8 http://cmuir.cmu.ac.th/handle/6653943832/2403 English |
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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. |
| format |
Article |
| author |
Ausavarat S. Tanpaiboon P. Tongkobpetch S. Suphapeetiporn K. Shotelersuk V. |
| spellingShingle |
Ausavarat S. Tanpaiboon P. Tongkobpetch S. Suphapeetiporn K. Shotelersuk V. Two novel EBP mutations in Conradi-Hünermann-Happle syndrome |
| author_facet |
Ausavarat S. Tanpaiboon P. Tongkobpetch S. Suphapeetiporn K. Shotelersuk V. |
| author_sort |
Ausavarat S. |
| title |
Two novel EBP mutations in Conradi-Hünermann-Happle syndrome |
| title_short |
Two novel EBP mutations in Conradi-Hünermann-Happle syndrome |
| title_full |
Two novel EBP mutations in Conradi-Hünermann-Happle syndrome |
| title_fullStr |
Two novel EBP mutations in Conradi-Hünermann-Happle syndrome |
| title_full_unstemmed |
Two novel EBP mutations in Conradi-Hünermann-Happle syndrome |
| title_sort |
two novel ebp mutations in conradi-hünermann-happle syndrome |
| publishDate |
2014 |
| url |
http://www.scopus.com/inward/record.url?eid=2-s2.0-47749112385&partnerID=40&md5=9385034db273a38acee3c9a352a055f8 http://cmuir.cmu.ac.th/handle/6653943832/2403 |
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1681419852153094144 |