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[Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia]

Mingyang Li¹, He Yuan, Jiyao Li

¹West China Hospital of Stomatology, Sichuan University, Chengdu, Sichuan 610041, P. R. China.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics

|June 8, 2013

Abstract

Objective:

To detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia (XLHED).

Methods:

Genomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing.

Results:

A c.467G> A mutation (R156H) was detected in exon 3 of the EDA gene in the proband, his mother, 2 uncles, and 1 aunt. The same mutation was not detected in the 50 non-related healthy controls.

Conclusion:

A c.467G>A mutation of the EDA gene probably underlies the disease in the family.

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