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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2006-12-14
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1098-1004
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pubmed:author |
pubmed-author:AntoniniAngeloA,
pubmed-author:BentiRiccardoR,
pubmed-author:BrancatiFrancescoF,
pubmed-author:CapalboAnnaA,
pubmed-author:CeccariniCaterinaC,
pubmed-author:DallapiccolaBrunoB,
pubmed-author:GoldwurmStefanoS,
pubmed-author:IalongoTamaraT,
pubmed-author:MarongiuRobertaR,
pubmed-author:PezzoliGianniG,
pubmed-author:ScarciollaOronzoO,
pubmed-author:ValenteEnza MariaEM
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pubmed:copyrightInfo |
(c) 2006 Wiley-Liss, Inc.
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pubmed:issnType |
Electronic
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
98
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:17154281-Amino Acid Sequence,
pubmed-meshheading:17154281-Base Sequence,
pubmed-meshheading:17154281-DNA Mutational Analysis,
pubmed-meshheading:17154281-Female,
pubmed-meshheading:17154281-Gene Deletion,
pubmed-meshheading:17154281-Genetic Heterogeneity,
pubmed-meshheading:17154281-Genotype,
pubmed-meshheading:17154281-Humans,
pubmed-meshheading:17154281-In Situ Hybridization, Fluorescence,
pubmed-meshheading:17154281-Middle Aged,
pubmed-meshheading:17154281-Molecular Sequence Data,
pubmed-meshheading:17154281-Mutation,
pubmed-meshheading:17154281-Parkinsonian Disorders,
pubmed-meshheading:17154281-Pedigree,
pubmed-meshheading:17154281-Protein Kinases,
pubmed-meshheading:17154281-RNA Splice Sites,
pubmed-meshheading:17154281-RNA Splicing
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pubmed:year |
2007
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pubmed:articleTitle |
Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.
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pubmed:affiliation |
IRCCS CSS-Mendel Institute, Rome, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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