A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia
A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia
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DOI：
10.1007/s10038-006-0071-8
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发表时间：
2006-10
影响因子：
3.5
通讯作者：
Changzheng Huang;Qinbo Yang;Tie Ke;Haisheng Wang;Xu Wang;Jianguo Shen;X. Tu;Jin Tian;Jing Yu Liu;Q. Wang;Mugen Liu
中科院分区：
文献类型：
--
作者：
Changzheng Huang;Qinbo Yang;Tie Ke;Haisheng Wang;Xu Wang;Jianguo Shen;X. Tu;Jin Tian;Jing Yu Liu;Q. Wang;Mugen Liu
Hypohidrotic ectodermal dysplasia (HED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. It can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Mutations in the EDA gene, which encodes ectodysplasin-A, are responsible for X-linked HED (XLHED). In the present study, we identified a Chinese Han family with XLHED. Direct DNA sequence analysis of the entire coding region and exon–intron boundaries of EDA identified a novel de novo mutation, c. 573_574insT, in two affected males and one carrier female. Restriction fragment length polymorphism (RFLP) analysis showed that the mutation was not present in 200 controls. The 1-bp insertion mutation resulted in a frameshift, which causes premature termination of EDA polypeptide and truncation of the EDA protein. These results suggest that the c. 573_574insT mutation of the EDA gene is a cause for XLHED in the family. To the best of our knowledge, this is the first de novo insertion mutation of EDA described for XLHED.
