Abstract
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.
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Acknowledgments
We would like to thank the members of the Chinese family for their participation in this study. This work was supported by the Tenth “Five-Year” National Science and Technology Key Program of China grant no. 2004BA720A (to M. L.), the National Natural Science Foundation of China grant no. 30571677 (to M. L.), and the Chinese Ministry of Science and Technology National High Technology “863” Programs of China grant no. 2002BA711A07 (to Q. K. W.).
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Changzheng Huang and Qinbo Yang contribute equally to this work.
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Huang, C., Yang, Q., Ke, T. et al. A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia. J Hum Genet 51, 1133–1137 (2006). https://doi.org/10.1007/s10038-006-0071-8
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DOI: https://doi.org/10.1007/s10038-006-0071-8
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