早发性帕金森病家族中新型D297fsX318 PINK1突变的鉴定及表型变异

Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease.

作者信息

Savettieri Giovanni, Annesi Grazia, Civitelli Donatella, Cirò Candiano Innocenza Claudia, Salemi Giuseppe, Ragonese Paolo, Annesi Ferdinanda, Tarantino Patrizia, Terruso Valeria, D'Amelio Marco, Quattrone Aldo

机构信息

Department of Clinical Neurosciences, University of Palermo, Italy.

出版信息

Parkinsonism Relat Disord. 2008 Aug;14(6):509-12. doi: 10.1016/j.parkreldis.2007.10.014. Epub 2008 Mar 7.

DOI:10.1016/j.parkreldis.2007.10.014

PMID:18329316

Abstract

Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was identified in two brothers with early-onset Parkinson disease (EOPD) from a Sicilian consanguineous family. Of note, while one of the two patients developed mental deterioration and psychiatric problems, the other showed no cognitive decline. The present study supports the view that PINK1 is a pathogenic gene in some Italian families with EOPD and contributes to define the PINK1-associated phenotype.

摘要

在此，我们首次描述了PINK1基因第4外显子中的一种新型纯合单核苷酸缺失（889delG），该缺失导致PINK1蛋白上的激酶结构域缺失（D297fsX318）。此突变在一个来自西西里岛近亲家庭的两名早发性帕金森病（EOPD）兄弟中被发现。值得注意的是，两名患者中的一人出现了精神衰退和精神问题，而另一人则未出现认知能力下降。本研究支持以下观点：PINK1在一些患有EOPD的意大利家庭中是致病基因，并有助于明确与PINK1相关的表型。