Genetic diagnosis for X-linked hypohidrotic ectodermal dysplasia family with a novel Ectodysplasin A gene mutation.

ABSTRACT:

Aim

To make a gene diagnosis for a family with Ectodysplasin A (EDA) gene mutation as well as prenatal diagnosis, and report a novel EDA gene mutation.

Methods

All coding sequences and flanking sequences of EDA gene were analyzed by Sanger sequencing in the proband, and then, according to EDA gene mutation in the proband, the EDA gene sequencing was performed on the family members. Based on the results above, the pathogenic mutation in EDA gene was finally identified, which was used for making prenatal diagnosis.

Results

Sanger sequencing revealed c.302_303delCC [p.Pro101HisfsX11] mutation in EDA gene of the proband. This mutation induced EDA gene frame shift mutation which led to early termination of EDA gene translation because there was a termination codon TAA at t

SUBMITTER: Ma X 

PROVIDER: S-EPMC6817217 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature