A pseudo-dominant form of Gitelman's syndrome.
A pseudo-dominant form of Gitelman's syndrome.
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DOI：
10.1093/ndtplus/sfr094
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发表时间：
2011-12
期刊：
影响因子：
--
通讯作者：
Vargas-Poussou R
中科院分区：
文献类型：
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作者：
de La Faille R;Vallet M;Venisse A;Nau V;Collet-Gaudillat C;Houillier P;Jeunemaitre X;Vargas-Poussou R
Gitelman综合征是一种常染色体隐性失盐肾病，由编码远曲小管NaCl共转运体的SLC12A3基因失活突变引起。我们报告了一个法国家庭，五名患病成员超过两代，表明显性传播。对7个个体进行SLC12A3测序后，检测到4个突变。伪显性传播是由一个复合杂合女性（一个等位基因上有两个突变，另一个等位基因上有一个突变）与一个杂合健康男性的结合来解释的。本研究显示了对具有不寻常表现的家族进行完整遗传分析的重要性。
Gitelman’s syndrome is an autosomal recessive salt losing nephropathy caused by inactivated mutations of the SLC12A3 gene, encoding the NaCl cotransporter of the distal convoluted tubule. We report a French family with five affected members over two generations suggesting a dominant transmission. After SLC12A3 sequencing of seven individuals, four mutations were detected. Pseudo-dominant transmission was explained by the union of a compound heterozygous woman (two mutations on one allele and one mutation on the other) with a heterozygous healthy man. This study shows the importance of complete genetic analysis of families with unusual presentation.