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

作者：Tao, Ran; Jin, Buhe; Guo, Shen Zheng; Qing, Wei; Feng, Guo Yin; Brooks, David G.; Liu, Lijun; Xu, Junfu; Li, Taiwei; Yan, Yujuan; He, Lin^*

来源：Journal of Human Genetics, 2006, 51(5): 498-502.

DOI：10.1007/s10038-006-0389-2

• EDA gene
• missense mutation
• oligodontia
• X-linked ectodermal dysplasia
• Xq12-q13.1

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.

• 出版日期2006
• 单位中国科学院; 上海交通大学; 上海市杨浦区中心医院; 中国科学院上海生命科学研究院; 通辽市医院