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

• DOI: 10.1002/jcla.22593
• Publication Date: 2018-07-14T05:20:27Z
• Authors: Xin Ma; Xue Lv; Hong‐yan Liu; Xing Wu; Li Wang; Hao Li; Hai‐yan Chou
• Keywords: Hypohidrotic ectodermal dysplasia; Proband; Sanger sequencing; Nonsense mutation

Aim To make a gene diagnosis for family with Ectodysplasin A ( EDA ) mutation as well prenatal diagnosis, and report novel mutation. Methods All coding sequences flanking of were analyzed by Sanger sequencing in the proband, then, according to was performed on members. Based results above, pathogenic finally identified, which used making diagnosis. Results revealed c.302_303del CC [p.Pro101HisfsX11] proband. This induced frame shift led early termination translation because there codon TAA at 11th behind mutational site. Heterozygous deletion /‐‐) this locus observed proband's mother grandmother, but aunt had no locus. The analyses amniotic fluid samples indicated negative sex‐determining region Y SRY ), heterozygous Conclusion We identified pathogenetic X‐linked hypohidrotic ectodermal dysplasia family, made female carrier, reported