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.6653943832-606922018-09-10T03:47:23Z Two novel EBP mutations in Conradi-Hünermann-Happle syndrome Surasawadee Ausavarat Pranoot Tanpaiboon Siraprapa Tongkobpetch Kanya Suphapeetiporn Vorasuk Shotelersuk Medicine 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. 2018-09-10T03:47:23Z 2018-09-10T03:47:23Z 2008-01-01 Journal 11671122 2-s2.0-47749112385 10.1684/ejd.2008.0433 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=47749112385&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/60692 |
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Medicine |
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Medicine Surasawadee Ausavarat Pranoot Tanpaiboon Siraprapa Tongkobpetch Kanya Suphapeetiporn Vorasuk Shotelersuk Two novel EBP mutations in Conradi-Hünermann-Happle syndrome |
| description |
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 |
Journal |
| author |
Surasawadee Ausavarat Pranoot Tanpaiboon Siraprapa Tongkobpetch Kanya Suphapeetiporn Vorasuk Shotelersuk |
| author_facet |
Surasawadee Ausavarat Pranoot Tanpaiboon Siraprapa Tongkobpetch Kanya Suphapeetiporn Vorasuk Shotelersuk |
| author_sort |
Surasawadee Ausavarat |
| 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 |
2018 |
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https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=47749112385&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/60692 |
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