Hypohidrotic ectodermal dysplasias(HED) are the most common subtype of ectodermal dysplasia,usually caused by ectodysplasin A(EDA) gene *** our study,The genomic DNA was extracted from the peripheral blood,and sequenc...
Hypohidrotic ectodermal dysplasias(HED) are the most common subtype of ectodermal dysplasia,usually caused by ectodysplasin A(EDA) gene *** our study,The genomic DNA was extracted from the peripheral blood,and sequenced using whole exome sequence,the detected mutations were confirmed in the patients and family members using Sanger sequencing,to reveal the pathogenesis of these mutation,the expression of soluble EDA1 was tested by western blot and *** identified four novel EDA1 mutations(c.T1136 C;c.G866 C+A868 T;c.924+6 T>A;c.96465 del),the c.T1136 C and c.G866 C+A868 T double mutant-type EDA1 protein showed impaired solubility comparing with wild-type EDA1,and the analysis of amniotic fluid samples indicated that the fetus was a c.T1136 C mutation female *** study extended the mutation spectrum of XLHED,and can be helpful with prenatal diagnosis and correction.
暂无评论