A novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family

• Published in: Archives of oral biology Vol. 107; p. 104507
• Main Authors: Liu, Guannan, Wang, Xin, Qin, Man, Sun, Lisha, Zhu, Junxia
• Format: Journal Article
• Language: English
• Published: England Elsevier Ltd 01.11.2019
• Subjects: Asian Continental Ancestry Group; Dentistry; Ectodermal Dysplasia 1, Anhidrotic - genetics; Ectodysplasin A; Ectodysplasins - genetics; HEK293 Cells; Humans; Hypohidrotic ectodermal dysplasia; Missense; Mutation; Mutation, Missense; Pedigree; Ectodysplasin A; Hypohidrotic ectodermal dysplasia; Mutation; Missense

•A novel missense mutation S305R of EDA gene was found to cause X-linked hypohidrotic ectodermal dysplasia.•This mutation located in the most conserved domain among TNF family ligands.•This mutation resulted in insoluble mutant EDA1. X-linked hypohidrotic ectodermal dysplasia (XLHED) can be characte...