Article
A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family.
Pediatric dermatology - 1 Jan 2000
Wasif Naveed, Tariq Muhammad, Ali Ghazanfar, Hassan Muhammad Jawad, Ahmad Wasim
Abstract excerpt
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.
Topics
- Base Sequence
- Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
- Edar Receptor
- Exons
- Family Health
- Female
- Genes, Recessive
- Haplotypes
- Homozygote
- Humans
- Male
- Pakistan
- Pedigree
- Phenotype
- Point Mutation
- RNA Splice Sites