A NEW LOCUS FOR ARRHYTHMOGENIC RIGHT-VENTRICULAR CARDIOMYOPATHY (ARVD2) MAPS TO CHROMOSOME 1Q42-Q43
A NEW LOCUS FOR ARRHYTHMOGENIC RIGHT-VENTRICULAR CARDIOMYOPATHY (ARVD2) MAPS TO CHROMOSOME 1Q42-Q43
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DOI：
10.1093/hmg/4.11.2151
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发表时间：
1995-11-01
影响因子：
3.5
通讯作者：
DANIELI, GA
中科院分区：
文献类型：
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作者：
RAMPAZZO, A;NAVA, A;DANIELI, GA
常染色体显性遗传性心肌病（Autosomal dominant mammogenic right ventricular cardiomyopathy，ARVD，MIM 107970）是青少年猝死的主要原因之一。我们先前已将该疾病位点定位于染色体14 q23-q24。在这里，我们报告了一种新的变异ARVD，这是传输相关的1 q42-q43，其特点是一个隐藏的形式，表现出努力诱导的多态性心动过速。由于两个位点ARVD 1和ARVD 2地图在α-辅肌动蛋白基因附近，这些肌原纤维蛋白在ARVD的发病机制的可能影响进行了讨论。另外两个ARVD家族，用染色体1 q42-q43和14 q23-q24的标记进行检测，未能显示连锁，提供了进一步遗传异质性的证据。
Autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVD, MIM 107970) is one of the major causes of juvenile sudden death. We have previously assigned the disease locus to chromosome 14q23-q24. Here we report on a novel variant of ARVD, which is transmitted associated to 1q42-q43 and is characterized by a concealed form, showing effort-induced polymorphic tachycardias. Since both loci ARVD1 and ARVD2 map in proximity of alpha-actinin genes, the possible implication of these myofibrillar proteins in the pathogenesis of ARVD is discussed. Two additional ARVD families, tested with markers of chromosomes 1q42-q43 and 14q23-q24, failed to show linkage, providing evidence of further genetic heterogeneity.