title: Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
abstract: 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.
authors.affiliation: IRCCS CSS-Mendel Institute, Rome, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Marongiu
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
authors.forename: Angelo
authors.initials: A
authors.lastname: Antonini
authors.forename: Tamara
authors.initials: T
authors.lastname: Ialongo
authors.forename: Caterina
authors.initials: C
authors.lastname: Ceccarini
authors.forename: Oronzo
authors.initials: O
authors.lastname: Scarciolla
authors.forename: Anna
authors.initials: A
authors.lastname: Capalbo
authors.forename: Riccardo
authors.initials: R
authors.lastname: Benti
authors.forename: Gianni
authors.initials: G
authors.lastname: Pezzoli
authors.forename: Bruno
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: Stefano
authors.initials: S
authors.lastname: Goldwurm
authors.forename: Enza Maria
authors.initials: EM
authors.lastname: Valente
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D017353:Gene Deletion; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics; D010375:Pedigree; D011494:Protein Kinases / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D012326:RNA Splicing / Q000502:physiology; D000099202:PTEN-Induced Putative Kinase
chemical_list: D011494:Protein Kinases; D022821:RNA Splice Sites; D000099202:PTEN-Induced Putative Kinase