A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family

Pediatr Dermatol. 2010 Jan-Feb;27(1):106-8. doi: 10.1111/j.1525-1470.2009.01062.x.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / genetics*
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / pathology*
  • Edar Receptor / genetics*
  • Exons / genetics
  • Family Health
  • Female
  • Genes, Recessive
  • Haplotypes
  • Homozygote
  • Humans
  • Male
  • Pakistan
  • Pedigree
  • Phenotype
  • Point Mutation*
  • RNA Splice Sites / genetics*

Substances

  • EDAR protein, human
  • Edar Receptor
  • RNA Splice Sites