A Novel Nonsense Mutation in the EDA Gene Causing X-Linked Hypohidrotic Ectodermal Dysplasia

Liu Guannan^1,2, Wang Xin¹, Qin Man¹, Sun Lisha³ and Zhu Junxia*¹

Received: December 08, 2018;   Published: December 19, 2018

DOI: 10.26717/BJSTR.2018.12.002249

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Abstract

X-linked hypohidrotic ectodermal dysplasia (XLHED) can be characterized by hypohidrosis, sparse hair, hypodontia, and characteristic facial features and usually caused by mutations of ectodysplasin A (EDA) gene located on the X chromosome. In this study, we examined a HED pedigree and carried out molecular biological experiments of the disease. A novel nonsense mutation was revealed by direct sequencing analysis in the EDA exons (c.526 G>T). The function of the mutant EDA gene was subsequently confirmed by in vitro study in human embryonic kidney 293T cells transfected with mutant or wild isoforms of EDA. The mutant-type EDA1 sequence showed total loss of the capability of protein producing compared with wild-type EDA1. This novel nonsense EDA mutation was considered to be the cause of HED in the pedigree reported here. Our findings, combined with those reported elsewhere, provide an improved understanding of the pathogenic mechanism of HED as well as important information for a genetic diagnosis.

Keywords :Etodysplasin A; Hypohidrotic Ectodermal Dysplasia; Mutation; Nonsense

Abbreviations : XLHED: X-Linked Hypohidrotic Ectodermal Dysplasia; EDA: Ectodysplasin A; HED: Hypohidrotic Ectodermal Dysplasia; SNP: Single Nucleotide Polymorphisms; TNF: Tumor Necrosis Factor; PCR: Polymerase Chain Reaction; PTC: Premature Termination Codon