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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1007/bf00883513

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1435-232X

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A novel missense mutation of the iEDA/i gene i

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
Publish Date: 2006/05
Volume: 51, Issue: 5, Pages: 498-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptXlinked 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 Xlinked fashion The affected members of the family did not show other HED characteristics except hypodontia We successfully mapped the affected locus to chromosome Xq12q131 and then found a novel missense mutation c193CG 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 Xchromosome inactivation pattern Our result strongly suggests that the c193CG mutation is the diseasecausing mutation in this family

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