期刊
JOURNAL OF HUMAN GENETICS
卷 51, 期 5, 页码 498-502出版社
NATURE PUBLISHING GROUP
DOI: 10.1007/s10038-006-0389-2
关键词
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.
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