A novel EDA gene mutation identified by whole exome sequencing in one patient with HED

Abstract

PURPOSE: This study aimed at revealing a novel ectodysplasin A (EDA) gene mutation in one hypohidrotic ectodermal dysplasia (HED) family. METHODS: Genomic DNA was extracted from peripheral blood of patients, and whole exome sequencing was used for gene sequencing. EDA1 (ectodysplasin A1) wild-type and mutant expression plasmids were constructed. Protein expression levels were detected by Western blotting. The effect on downstream NF-κB pathway activity was detected by dual luciferase analysis. The data was analyzed with SPSS 20.0 software. RESULTS: We identified a novel EDA c.649_666del (p.Pro217_Pro222del) mutation. Compared with wild-type EDA1, the mutant EDA1 protein can be expressed and secreted normally, but its transcriptional activation of downstream NF-κB pathway was significantly decreased(P<0.05). CONCLUSIONS: This study identified a novel deletion mutation of EDA gene, which expanded the mutation spectrum of X-linked hypohidrotic ectodermal dysplasia and can be helpful for prenatal consultation, diagnosis and correction.