Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
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.
Marongiu
Roberta
R
IRCCS CSS-Mendel Institute, Rome, Italy.
Brancati
Francesco
F
Antonini
Angelo
A
Ialongo
Tamara
T
Ceccarini
Caterina
C
Scarciolla
Oronzo
O
Capalbo
Anna
A
Benti
Riccardo
R
Pezzoli
Gianni
G
Dallapiccola
Bruno
B
Goldwurm
Stefano
S
Valente
Enza Maria
EM
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
D011494:Protein Kinases; D022821:RNA Splice Sites; D000099202:PTEN-Induced Putative Kinase