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Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum
Author(s) -
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
Publication year - 2007
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9472
Subject(s) - biology , genetics , pink1 , exon , gene , parkin , mutation , rna splicing , genotype , splice , parkinsonism , disease , parkinson's disease , rna , medicine , apoptosis , autophagy , pathology , mitophagy
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. © 2006 Wiley‐Liss, Inc.