Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism

被引：6

作者：

Mata, IF

Alvarez, V

Coto, E

Blazquez, M

Guisasola, LM

Salvador, C

Kachergus, JM

Lincoln, SJ

Farrer, M

机构：

[1] Mayo Clin, Dept Neurosci, Lab Neurogenet, Jacksonville, FL 32224 USA

[2] Hosp Cent Asturias, Oviedo 33006, Spain

[3] Hosp Univ Cent Asturias, Serv Neurol, Oviedo, Spain

来源：

NEUROSCIENCE LETTERS | 2005年 / 380卷 / 03期

基金：

美国国家卫生研究院;

关键词：

parkin; Parkinson's disease; triplication;

D O I：

10.1016/j.neulet.2005.01.051

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Autosomal recessive mutations in the parkin gene are the predominant cause of familial, early-onset parkinsonism; missense mutations involving one or a few nucleotides, exonic deletions and duplications have been described. Here we report a family with two affected brothers. Direct sequencing of parkin did not detect mutations, but semi-quantitative analysis identified a novel exonic rearrangement of exons 2-4. Both patients were homozygous for unique genomic triplications of the parkin gene. (c) 2005 Elsevier Ireland Ltd. All rights reserved.

引用

页码：257 / 259

页数：3

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