Systematic mutational analysis of FBXO7 in a Parkinson's disease population from southern Spain

被引：8

作者：

Gomez-Garre, Pilar ^{[1
,2
]}

Jesus, Silvia ^{[1
]}

Carrillo, Fatima ^{[1
]}

Teresa Caceres-Redondo, Maria ^{[1
]}

Huertas-Fernandez, Ismael ^{[1
]}

Bernal-Bernal, Inmaculada ^{[1
]}

Bonilla-Toribio, Marta ^{[1
]}

Vargas-Gonzalez, Laura ^{[1
]}

Carballo, Manuel ^{[1
]}

Mir, Pablo ^{[1
,2
]}

机构：

[1] Univ Seville, CSIC, Hosp Univ Virgen Rocio,Serv Neurol & Neurofisiol, Inst Biomed Sevilla IBiS,Unidad Trastornos Movimi, Seville, Spain

[2] Ctr Invest Red Enfermedades Neurodegenerat CIBERN, Madrid, Spain

来源：

NEUROBIOLOGY OF AGING | 2014年 / 35卷 / 03期

关键词：

Mutational analysis; Parkinson's disease; FBXO7; Early-onset; Variants; Parkinsonism; Pyramidal signs;

D O I：

10.1016/j.neurobiolaging.2013.09.011

中图分类号：

R592 [老年病学]; C [社会科学总论];

学科分类号：

03 ; 0303 ; 100203 ;

摘要：

Mutations in FBXO7 (PARK15) have been associated with a syndrome characterized by early-onset progressive parkinsonism with and without pyramidal tract signs. Therefore, our aim was to analyze this gene in a population from southern Spain (338 Parkinson's disease [PD] patients and 330 unrelated control subjects) to elucidate the potential involvement of FBXO7 in PD pathogenesis. We identified 17 variants (11 novel), including 10 missense substitutions, 3 synonymous, and 4 intronic alterations. Six substitutions were described as putatively damaging by the bioinformatics tools and 1 intronic variation was described to affect splicing. Minor allele frequencies of the highly polymorphic coding single nucleotide polymorphisms (SNPs) in PD patients and control subjects were similar. All rare variants were heterozygous. No deletions or duplications involving FBXO7 exons were identified. Our results suggest that the involvement of the FBXO7 gene in PD is very rare, at least in this population from southern Spain. (C) 2014 Elsevier Inc. All rights reserved.

引用

页码：727.e5 / 727.e7

页数：3