Conradi-Hünermann-Happle综合征中的两个新型EBP突变

摘要(中文译文)

Conradi-Hünermann-Happle综合征，又称点状软骨发育不良2型（CDPX2），是一种X连锁显性遗传病，以皮肤缺陷、骨骼及眼部异常为特征。CDPX2已被证实由编码艾莫帕米结合蛋白（EBP）的基因突变所致。目前已报道至少58种不同的突变。本文报告了两例无亲缘关系的泰国CDPX2女童的临床及分子学发现。通过对EBP整个编码区进行PCR测序的突变分析，成功发现了两个可能致病的新的突变，即c.616G-->T和c.382delC。本研究扩展了导致CDPX2的EBP基因突变谱。

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.

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