Research Article

Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia

Published: December 02, 2015
Genet. Mol. Res. 14 (4) : 15779-15782 DOI: https://doi.org/10.4238/2015.December.1.29
Cite this Article:
J.J. Xue, B. Tan, Q.P. Gao, G.S. Zhu, D.S. Liang, L.Q. Wu (2015). Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia. Genet. Mol. Res. 14(4): 15779-15782. https://doi.org/10.4238/2015.December.1.29
1,471 views

Abstract

This study aimed to identify the disease-causing mutation in the ectodysplasin A (EDA) gene in a Chinese family affected by X-linked hypohidrotic ectodermal dysplasia (XLHED). A family clinically diagnosed with XLHED was investigated. For mutation analysis, the coding region of EDA of 2 patients and 7 unaffected members of the family was sequenced. The detected mutation in EDA was investigated in 120 normal controls. A missense mutation (c.878T>G) in EDA was detected in 2 patients and 3 female carriers, but not in 4 unaffected members of the family. The mutation was not found in the 120 healthy controls and has not been reported previously. Our findings indicate that a novel mutation (c.878T>G) of EDA is associated with XLHED and adds to the repertoire of EDA mutations.

This study aimed to identify the disease-causing mutation in the ectodysplasin A (EDA) gene in a Chinese family affected by X-linked hypohidrotic ectodermal dysplasia (XLHED). A family clinically diagnosed with XLHED was investigated. For mutation analysis, the coding region of EDA of 2 patients and 7 unaffected members of the family was sequenced. The detected mutation in EDA was investigated in 120 normal controls. A missense mutation (c.878T>G) in EDA was detected in 2 patients and 3 female carriers, but not in 4 unaffected members of the family. The mutation was not found in the 120 healthy controls and has not been reported previously. Our findings indicate that a novel mutation (c.878T>G) of EDA is associated with XLHED and adds to the repertoire of EDA mutations.