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

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• 作者：Pilar G贸mez-Garre ; Silvia Jes煤s ; F谩tima Carrillo ; Maria Teresa C谩ceres-Redondo ; Ismael Huertas-Fern谩ndez ; Inmaculada Bernal-Bernal ; Marta Bonilla-Toribio ; Laura Vargas-Gonz谩lez ; Manuel Carballo ; Pablo Mir
• 关键词：Mutational analysis ; Parkinson's disease ; FBXO7 ; Early-onset ; Variants ; Parkinsonism ; Pyramidal signs
• 刊名：Neurobiology of Aging
• 出版年：March, 2014
• 年：2014
• 卷：35
• 期：3
• 页码：727.e5-727.e7
• 全文大小：153 K

文摘

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.