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Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
- Source :
-
Human mutation [Hum Mutat] 2007 Jan; Vol. 28 (1), pp. 98. - Publication Year :
- 2007
-
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&#95;15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of PINK1 mutations, with relevant implications for molecular analysis of this gene.<br /> ((c) 2006 Wiley-Liss, Inc.)
- Subjects :
- Amino Acid Sequence
Base Sequence
DNA Mutational Analysis
Female
Genotype
Humans
In Situ Hybridization, Fluorescence
Middle Aged
Molecular Sequence Data
Mutation
Parkinsonian Disorders genetics
Pedigree
RNA Splicing physiology
Gene Deletion
Genetic Heterogeneity
Protein Kinases genetics
RNA Splice Sites genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1098-1004
- Volume :
- 28
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Human mutation
- Publication Type :
- Academic Journal
- Accession number :
- 17154281
- Full Text :
- https://doi.org/10.1002/humu.9472