A Novel Splice Site Mutation in the EDAR Gene Underlies Autosomal Recessive Hypohidrotic Ectodermal Dysplasia in a Pakistani Family

作者：Wasif Naveed; Tariq Muhammad; Ali Ghazanfar; Hassan Muhammad Jawad; Ahmad Wasim^*

来源：Pediatric Dermatology, 2010, 27(1): 106-108.

DOI：10.1111/j.1525-1470.2009.01062.x

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.

• 出版日期2010-2