Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene
Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene
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DOI：
10.1136/jnnp.73.1.65
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发表时间：
2002-07-01
影响因子：
11
通讯作者：
Minetti, C
中科院分区：
文献类型：
--
作者：
Merlini, L;Carbone, I;Minetti, C
一位18岁的男性和他的母亲都出现了持续性、孤立的血清肌酸激酶升高(高血钙血症)，但没有肌肉症状。对先证者肌肉活检组织中Coveolin-3蛋白表达的分析表明，该蛋白表达减少。遗传分析揭示了CAV-3基因的一个新的杂合性突变：外显子1的83位核苷酸发生C->；T转变，导致28位氨基酸(P28L)的亮氨酸被取代。这是与孤立的家族性高血糖症相关的CAV-3基因的第一个致病突变。扩大了小窝蛋白-3缺乏症患者的遗传异质性，证实了小窝蛋白-3缺乏症在孤立性高钙血症的鉴别诊断中应予以考虑。
An 18 year old man and his mother both presented with persistent, isolated raised serum creatine kinase (hyperCKaemia) without muscle symptoms. Analysis of coveolin-3 protein expression in muscle biopsy of the propositus showed a reduction in the protein. Genetic analysis revealed a new heterozygous mutation in the caveolin-3 (CAV-3) gene: a C-->T transition at nucleotide position 83 in exon 1 leading to a substitution of a praline for a leucine at amino acid position 28 (P28L). This is the first pathogenic mutation in the CAV-3 gene associated with isolated familial hyperCKaemia. It expands the genetic heterogeneity in patients with caveolin-3 deficiency and confirms that caveolin-3 deficiency should be considered in the differential diagnosis of isolated hyperCKaemia.