title: A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.
abstract: X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the ectodermal dysplasias characterized by an abnormal development of eccrine sweat glands, hair and teeth. Pathogenic mutations in the ED1 gene have been identified. In this family, a 22-bp deletion mutation of exon 8 in the ED1 gene was found in the affected members but not in the healthy individuals and 100 unrelated controls. We add new variant to the knowledge of ED1 mutations in XLHED.
authors.affiliation: Department of Dermatology, The Wuxi Second Affiliated Hospital of Nanjing Medical University, Wuxi, Jiangsu, China. aypyslm@163.com
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.forename: Tian-Yi
authors.initials: TY
authors.lastname: Xu
authors.forename: Li-Jia
authors.initials: LJ
authors.lastname: Yang
authors.forename: Xiao-Hong
authors.initials: XH
authors.lastname: Zhu
mesh_terms: D044466:Asian People; D002648:Child; D004252:DNA Mutational Analysis; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics* / Q000503:physiopathology; D053331:Ectodysplasins / Q000235:genetics*; D004890:Erythema; D005334:Fever / Q000235:genetics; D006580:Genetic Carrier Screening; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008297:Male; D010375:Pedigree; D012008:Recurrence; D017384:Sequence Deletion; D015595:Skin Aging; D013545:Sweat Glands / Q000002:abnormalities; D014071:Tooth Abnormalities
chemical_list: C506018:EDA protein, human; D053331:Ectodysplasins