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
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DOI：
10.1007/s10038-006-0389-2
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发表时间：
2006-01-01
影响因子：
3.5
通讯作者：
He, Lin
中科院分区：
文献类型：
--
作者：
Tao, Ran;Jin, Buhe;He, Lin
x连锁少汗性外胚层发育不良（HED）是一种罕见的疾病，其特征是汗腺发育不全或缺失、皮肤干燥、毛发稀少和牙齿异常。在这里，我们报告一个蒙古家庭先天性牙齿缺失遗传在x连锁的方式。受影响的家庭成员没有表现出其他HED特征，除了下颌畸形。我们成功地将受影响的位点定位到染色体Xq12-q13.1，然后在所有受影响的男性和携带者女性的胞外发育异常蛋白a （EDA）基因中发现了一个新的错义突变c.193C > G。该突变导致EDA近膜区密码子65 （R65G）上的精氨酸被甘氨酸取代。此外，33%（3/9）的女性携带者具有扭曲的x染色体失活模式。我们的结果强烈提示c.193C >g突变是该家族的致病突变。
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.