title: A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
abstract: 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 > or = C] of the gene.
authors.affiliation: Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
authors.forename: Naveed
authors.initials: N
authors.lastname: Wasif
authors.forename: Muhammad
authors.initials: M
authors.lastname: Tariq
authors.forename: Ghazanfar
authors.initials: G
authors.lastname: Ali
authors.forename: Muhammad Jawad
authors.initials: MJ
authors.lastname: Hassan
authors.forename: Wasim
authors.initials: W
authors.lastname: Ahmad
mesh_terms: D001483:Base Sequence; D053360:Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / Q000235:genetics* / Q000473:pathology*; D053339:Edar Receptor / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005192:Family Health; D005260:Female; D005808:Genes, Recessive; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008297:Male; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics*
chemical_list: C506008:EDAR protein, human; D053339:Edar Receptor; D022821:RNA Splice Sites