Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease.
Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was identified in two brothers with early-onset Parkinson disease (EOPD) from a Sicilian consanguineous family. Of note, while one of the two patients developed mental deterioration and psychiatric problems, the other showed no cognitive decline. The present study supports the view that PINK1 is a pathogenic gene in some Italian families with EOPD and contributes to define the PINK1-associated phenotype.
Savettieri
Giovanni
G
Department of Clinical Neurosciences, University of Palermo, Italy.
Annesi
Grazia
G
Civitelli
Donatella
D
Cirò Candiano
Innocenza Claudia
IC
Salemi
Giuseppe
G
Ragonese
Paolo
P
Annesi
Ferdinanda
F
Tarantino
Patrizia
P
Terruso
Valeria
V
D'Amelio
Marco
M
Quattrone
Aldo
A
D017668:Age of Onset; D000368:Aged; D000595:Amino Acid Sequence; D000978:Antiparkinson Agents / Q000627:therapeutic use; D003072:Cognition Disorders / Q000209:etiology / Q000523:psychology; D005091:Exons / Q000235:genetics; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics* / Q000523:psychology; D010375:Pedigree; D010641:Phenotype; D011494:Protein Kinases / Q000235:genetics*; D000099202:PTEN-Induced Putative Kinase
D000978:Antiparkinson Agents; D007980:Levodopa; D011494:Protein Kinases; D000099202:PTEN-Induced Putative Kinase