Marongiu Roberta, Brancati Francesco, Antonini Angelo, Ialongo Tamara, Ceccarini Caterina, Scarciolla Oronzo, Capalbo Anna, Benti Riccardo, Pezzoli Gianni, Dallapiccola Bruno, Goldwurm Stefano, Valente Enza Maria
IRCCS CSS-Mendel Institute, Rome, Italy.
Hum Mutat. 2007 Jan;28(1):98. doi: 10.1002/humu.9472.
Autosomal recessive parkinsonism is a genetic condition closely resembling Parkinson disease, the only distinguishing features being an earlier age at onset and a slower disease progression. Three causative genes have been identified so far. While exon rearrangements are frequently encountered in the Parkin gene, most PINK1 mutations are represented by single nucleotide changes. We report a sporadic parkinsonian patient carrying a deletion of the entire PINK1 gene and a splice site mutation (g.15445_15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of PINK1 mutations, with relevant implications for molecular analysis of this gene.
常染色体隐性帕金森综合征是一种与帕金森病极为相似的遗传病症，唯一的区别特征是发病年龄较早且疾病进展较慢。目前已鉴定出三个致病基因。虽然在帕金基因中经常会遇到外显子重排，但大多数PINK1突变表现为单核苷酸变化。我们报告了一名散发型帕金森病患者，其携带整个PINK1基因的缺失以及一个剪接位点突变（g.15445_15467del23），该突变产生了几种异常mRNA。本报告扩展了PINK1突变的基因型谱，对该基因的分子分析具有重要意义。
