Progranulin mutations in Dutch familial frontotemporal lobar degeneration
Progranulin mutations in Dutch familial frontotemporal lobar degeneration
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DOI：
10.1038/sj.ejhg.5201772
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发表时间：
2007-03-01
影响因子：
5.2
通讯作者：
van Swieten, John C.
中科院分区：
文献类型：
--
作者：
Bronner, Iraad F.;Rizzu, Patrizia;van Swieten, John C.
前粒蛋白(PGRN)基因突变最近在额颞叶退行性变中被发现，其泛素包涵体与染色体17q21连锁。我们在此报告在PGRN基因中发现了两个新的移码突变和三个可能的致病错义突变。此外，我们确定了在荷兰进行的一项基于人群的额颞叶变性大规模研究中招募的家族性病例中PGRN突变的频率。
Mutations in the progranulin (PGRN) gene have recently been identified in frontotemporal lobar degeneration with ubiquitin inclusions linked to chromosome 17q21. We report here the finding of two novel frameshift mutations and three possible pathogenic missense mutations in the PGRN gene. Furthermore, we determined the frequency of PGRN mutations in familial cases recruited from a large population-based study of frontotemporal lobar degeneration carried out in The Netherlands.