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A Novel Splice Site Mutation in the EDAR Gene Underlies Autosomal Recessive Hypohidrotic Ectodermal Dysplasia in a Pakistani Family
Author(s) -
WASIF NAVEED,
TARIQ MUHAMMAD,
ALI GHAZANFAR,
HASSAN MUHAMMAD JAWAD,
AHMAD WASIM
Publication year - 2010
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2009.01062.x
Subject(s) - hypohidrotic ectodermal dysplasia , ectodermal dysplasia , exon , genetics , medicine , hypodontia , mutation , hypotrichosis , splice site mutation , gene , dermatology , biology , dentistry , alternative splicing
Hypohidrotic ectodermal dysplasia is a rare congenital disorder that results in abnormalities in the structures of ectodermal origin: hair, teeth, and eccrine sweat glands. DNA sequence analysis of EDAR gene in a Pakistani family, demonstrating autosomal recessive form of hypohidrotic ectodermal dysplasia, identified a novel homozygous mutation affecting splice donor site of exon 5 [IVS5+1G ≥ C] of the gene.