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

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.

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.

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 the 11th codon behind the mutational site. Heterozygous deletion mutation (CC/--) at this locus was observed in the proband's mother and proband's grandmother, but the proband's aunt had no mutation at this locus. The analyses of amniotic fluid samples indicated negative sex-determining region on Y (SRY), and c.302_303delCC heterozygous deletion mutation.

We identified a pathogenetic mutation in EDA gene for the X-linked hypohidrotic ectodermal dysplasia family, made a prenatal diagnosis for the female carrier, and reported a novel EDA gene mutation.