Phenotypic variability associated with Arg26Gln mutation in caveolin3
Phenotypic variability associated with Arg26Gln mutation in caveolin3
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DOI：
10.1002/mus.20092
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发表时间：
2004-09-01
期刊：
影响因子：
3.4
通讯作者：
Pulst, SM
中科院分区：
文献类型：
--
作者：
Fee, DB;So, YT;Pulst, SM
Caveolin 3（CAV 3）是与肌营养不良蛋白、肌营养不良蛋白相关糖蛋白和dysferlin相关的蛋白质。CAV 3基因突变导致某些常染色体显性遗传疾病，即波纹肌病（RMD）、肢带肌营养不良1C型（LGMD1C）、远端肌病和高CK血症。在这份报告中，我们表明，以前报告的家庭与RMD有一个突变的CAV3基因。受影响的个体要么具有特征性RMD表型、RMD和LGMD 1C表型的组合，要么具有LGMD 1C表型，但一名突变携带者在86岁时没有症状。这种与CAV3突变相关的表型变异以前已有报道，但仅在少数家族中。重要的是要记住与CAV3突变相关的显著表型变异性，当咨询这些突变的家庭时。这些观察结果还表明存在独立于改变表型的CAV3基因位点的因素。
Caveolin3 (CAV3) is a protein associated with dystrophin, dystrophin-associated glycoproteins, and dysferlin. Mutations in the CAV3 gene result in certain autosomal-dominant inherited diseases, namely, rippling muscle disease (RMD), limb-girdle muscular dystrophy type 1C (LGMD1C), distal myopathy, and hyperCKemia. In this report we show that a previously reported family with RMD has a mutation in the CAV3 gene. Affected individuals had either a characteristic RMD phenotype, a combination of RMD and LGMD1C phenotypes, or a LGMD1C phenotype, but one mutation carrier was asymptomatic at age 86 years. This phenotypic variability associated with mutations in CAV3 has been reported previously but only in a few families. It is important to remember the significant phenotypic variability associated with CAV3 mutations when counseling families with these mutations. These observations also suggest the presence of factors independent of the CAV3 gene locus that modify phenotype.