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

Abstract

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.

• Authors: Ran Tao, Buhe Jin, Shen Zheng Guo, Wei Qing, Guo Yin Feng, David G Brooks, Lijun Liu, Junfu Xu, Taiwei Li, Yujuan Yan, Lin He
• Journal: Journal of human genetics (J Hum Genet) Vol. 51 Issue 5 Pg. 498-502 ( 2006) ISSN: 1434-5161 [Print] England
• PMID: 16583127 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

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

Topics

• 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)