A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.
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.
Institute for Nutritional Sciences, Shanghai Institute of Biological Sciences, Chinese Academy of Sciences, 294 Taiyuan Road, 200031, Shanghai, China.|Bio-X Life Science Research Center, Shanghai Jiao Tong University, Hao Ran Building, 1954 Hua Shan Road, P.O. Box 501, 200030, Shanghai, China.
Ran
R
Tao
Merck Research Laboratories, West Point, PA, USA.
Buhe
B
Jin
Institute for Nutritional Sciences, Shanghai Institute of Biological Sciences, Chinese Academy of Sciences, 294 Taiyuan Road, 200031, Shanghai, China.|Bio-X Life Science Research Center, Shanghai Jiao Tong University, Hao Ran Building, 1954 Hua Shan Road, P.O. Box 501, 200030, Shanghai, China.
Shen Zheng
SZ
Guo
Bio-X Life Science Research Center, Shanghai Jiao Tong University, Hao Ran Building, 1954 Hua Shan Road, P.O. Box 501, 200030, Shanghai, China.
Wei
W
Qing
Institute for Nutritional Sciences, Shanghai Institute of Biological Sciences, Chinese Academy of Sciences, 294 Taiyuan Road, 200031, Shanghai, China.|Bio-X Life Science Research Center, Shanghai Jiao Tong University, Hao Ran Building, 1954 Hua Shan Road, P.O. Box 501, 200030, Shanghai, China.
Guo Yin
GY
Feng
Merck Research Laboratories, West Point, PA, USA.
David G
DG
Brooks
Department of Internal Medicine, Tongliao Hospital, Tongliao, Neimenggu, China.
Lijun
L
Liu
Department of Internal Medicine, Tongliao Hospital, Tongliao, Neimenggu, China.
Junfu
J
Xu
Department of Internal Medicine, Tongliao Hospital, Tongliao, Neimenggu, China.
Taiwei
T
Li
Department of Stomatology, Yangpu Central Hospital, Shanghai, China.
Yujuan
Y
Yan
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.|Institute for Nutritional Sciences, SIBS, CAS, 319 Yueyang Road, 200031, Shanghai, China. helin@nhgg.org.
Lin
L
He
D000848:Anodontia / Q000235:genetics*; D001483:Base Sequence; D041321:Chromosomes, Human, X; D053331:Ectodysplasins; D005190:Family; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D008986:Mongolia; D020125:Mutation, Missense; D010375:Pedigree; D048069:Tumor Necrosis Factors / Q000235:genetics*
C506018:EDA protein, human; D053331:Ectodysplasins; D008565:Membrane Proteins; D048069:Tumor Necrosis Factors