A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia

Am J Med Genet A. 2014 Aug;164A(8):2059-61. doi: 10.1002/ajmg.a.36582. Epub 2014 Apr 24.

Abstract

We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient.

Keywords: EDA; EDAR; KPP; NF-kB; autosomal recessive; clinical findings; hypohidrotic ectodermal dysplasia; novel mutation.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / diagnosis*
  • Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive / genetics*
  • Edar Receptor / genetics*
  • Female
  • Genetic Association Studies*
  • Humans
  • Mutation*
  • Phenotype*
  • Severity of Illness Index

Substances

  • EDAR protein, human
  • Edar Receptor