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

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.
Ran Tao 1 2,  Buhe Jin 3,  Shen Zheng Guo 1 2,  Wei Qing 2,  Guo Yin Feng 1 2,  David G Brooks 3,  Lijun Liu 4,  Junfu Xu 4,  Taiwei Li 4,  Yujuan Yan 5,  Lin He 6 7
Affiliations

Affiliations

  • 1 Institute for Nutritional Sciences, Shanghai Institute of Biological Sciences, Chinese Academy of Sciences, 294 Taiyuan Road, 200031, Shanghai, China.
  • 2 Bio-X Life Science Research Center, Shanghai Jiao Tong University, Hao Ran Building, 1954 Hua Shan Road, P.O. Box 501, 200030, Shanghai, China.
  • 3 Merck Research Laboratories, West Point, PA, USA.
  • 4 Department of Internal Medicine, Tongliao Hospital, Tongliao, Neimenggu, China.
  • 5 Department of Stomatology, Yangpu Central Hospital, Shanghai, China.
  • 6 Bio-X Life Science Research Center, Shanghai Jiao Tong University, Hao Ran Building, 1954 Hua Shan Road, P.O. Box 501, 200030, Shanghai, China. helin@nhgg.org.
  • 7 Institute for Nutritional Sciences, SIBS, CAS, 319 Yueyang Road, 200031, Shanghai, China. helin@nhgg.org.
PMID: 16583127 DOI: 10.1007/s10038-006-0389-2
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.

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