2q37 as a Susceptibility Locus for Idiopathic Basal Ganglia Calcification (IBGC) in a Large South Tyrolean Family
2q37 as a Susceptibility Locus for Idiopathic Basal Ganglia Calcification (IBGC) in a Large South Tyrolean Family
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DOI：
10.1007/s12031-009-9287-3
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发表时间：
2009-11-01
影响因子：
3.1
通讯作者：
Pramstaller, Peter P.
中科院分区：
文献类型：
--
作者：
Volpato, Claudia Beu;De Grandi, Alessandro;Pramstaller, Peter P.
家族性特发性基底神经节钙化（FIBGC）是一种遗传性神经退行性疾病，其特征是钙沉积在不同脑区，特别是基底神经节。FIBGC通常遵循常染色体显性遗传模式。尽管在一个家族中IBGC（IBCG1）的易感基因定位于染色体14 q，但在其他几个家族中该基因座已被排除，表明该疾病的遗传异质性。因此，这种疾病的病因在很大程度上仍然未知。使用一个大的扩展的多代意大利家庭从南蒂罗尔州的17个受影响的56名成员，我们进行了全基因组连锁分析，我们能够排除连锁的IBCG1基因座染色体14q上，并获得一个新的基因座染色体2q37的证据。
Familial idiopathic basal ganglia calcification (FIBGC) is an inherited neurodegenerative disorder characterized by the accumulation of calcium deposits in different brain regions, particularly in the basal ganglia. FIBGC usually follows an autosomal dominant pattern of inheritance. Despite the mapping to chromosome 14q of a susceptibility locus for IBGC (IBCG1) in one family, this locus has been excluded in several others, demonstrating genetic heterogeneity in this disorder. The etiology of this disorder thus remains largely unknown. Using a large extended multigenerational Italian family from South Tyrol with 17 affected in a total of 56 members, we performed a genome-wide linkage analysis in which we were able to exclude linkage to the IBCG1 locus on chromosome 14q and obtain evidence of a novel locus on chromosome 2q37.