title: A novel frameshift mutation of the EDA1 gene in a Chinese Han family with X-linked hypohidrotic ectodermal dysplasia.
abstract: Hypohidrotic ectodermal dysplasia (HED) is a rare skin disease characterized by hypotrichosis, hypodontia and hypohidrosis. HED can be autosomal dominant, autosomal recessive or X-linked. However, X-linked HED (XLHED; OMIM 305100) is the most common form. Mutations within the EDA1 gene, which encodes ectodysplasin-A, are responsible for XLHED. In this study, we investigated the EDA1 gene in a Chinese Han family with XLHED, and found a novel 1-bp deletion mutation (c.952delG) in exon 9 of the EDA1 gene, which results in a frameshift and premature termination codon. This result suggests that the c.952delG mutation of the EDA1 gene is likely to be the disease-causing mutation for XLHED in this family. Our study adds new data to the worldwide knowledge of the molecular basis of XLHED.
authors.affiliation: Department of Dermatology, Institute of Dermatology, No 1 Hospital, Anhui Medical University, Hefei, China.
authors.forename: H
authors.initials: H
authors.lastname: Zhang
authors.forename: C
authors.initials: C
authors.lastname: Quan
authors.forename: L-D
authors.initials: LD
authors.lastname: Sun
authors.forename: H-L
authors.initials: HL
authors.lastname: Lv
authors.forename: M
authors.initials: M
authors.lastname: Gao
authors.forename: F-S
authors.initials: FS
authors.lastname: Zhou
authors.forename: F-L
authors.initials: FL
authors.lastname: Xiao
authors.forename: Q-Y
authors.initials: QY
authors.lastname: Fang
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Shen
authors.forename: L
authors.initials: L
authors.lastname: Zhou
authors.forename: S
authors.initials: S
authors.lastname: Yang
authors.forename: X-J
authors.initials: XJ
authors.lastname: Zhang
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics; D004252:DNA Mutational Analysis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics*; D053331:Ectodysplasins / Q000235:genetics*; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins