A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia

J Hum Genet. 2006;51(5):498-502. doi: 10.1007/s10038-006-0389-2. Epub 2006 Apr 1.


X-linked hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by the hypoplasia or absence of eccrine glands, dry skin, scant hair, and dental abnormalities. Here, we report a Mongolian family with congenital absence of teeth inherited in an X-linked fashion. The affected members of the family did not show other HED characteristics, except hypodontia. We successfully mapped the affected locus to chromosome Xq12-q13.1, and then found a novel missense mutation, c.193C>G, in the ectodysplasin A (EDA) gene in all affected males and carrier females. The mutation causes arginine to be replaced by glycine in codon 65 (R65G) in the juxtamembrane region of EDA. In addition, 33% (3/9) of female carriers have a skewed X-chromosome inactivation pattern. Our result strongly suggests that the c.193C>G mutation is the disease-causing mutation in this family.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anodontia / genetics*
  • Base Sequence
  • Chromosomes, Human, X
  • Ectodysplasins
  • Family
  • Female
  • Haplotypes
  • Humans
  • Male
  • Membrane Proteins / genetics*
  • Molecular Sequence Data
  • Mongolia
  • Mutation, Missense*
  • Pedigree
  • Tumor Necrosis Factors / genetics*


  • EDA protein, human
  • Ectodysplasins
  • Membrane Proteins
  • Tumor Necrosis Factors