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

Genetics and molecular research : GMR

PubMedID: 26634545

Xue JJ, Tan B, Gao QP, Zhu GS, Liang DS, Wu LQ. Identification of a novel mutation of the EDA gene in X-linked hypohidrotic ectodermal dysplasia. Genet Mol Res. 2015;14(4):15779-82.
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.