Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum
Identifieur interne : 000F13 ( Main/Exploration ); précédent : 000F12; suivant : 000F14Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum
Auteurs : Roberta Marongiu [Italie] ; Francesco Brancati [Italie] ; Angelo Antonini [Italie] ; Tamara Ialongo [Italie] ; Caterina Ceccarini [Italie] ; Oronzo Scarciolla [Italie] ; Anna Capalbo [Italie] ; Riccardo Benti [Italie] ; Gianni Pezzoli [Italie] ; Bruno Dallapiccola [Italie] ; Stefano Goldwurm [Italie] ; Enza Maria Valente [Italie]Source :
- Human Mutation [ 1059-7794 ] ; 2007-01.
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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. © 2006 Wiley‐Liss, Inc.
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DOI: 10.1002/humu.9472
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D'Annunzio University Foundation, Chieti</wicri:regionArea><wicri:noRegion>Chieti</wicri:noRegion></affiliation></author><author><name sortKey="Capalbo, Anna" sort="Capalbo, Anna" uniqKey="Capalbo A" first="Anna" last="Capalbo">Anna Capalbo</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Benti, Riccardo" sort="Benti, Riccardo" uniqKey="Benti R" first="Riccardo" last="Benti">Riccardo Benti</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Nuclear Medicine, IRCCS‐Ospedale Maggiore, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituti Clinici di Perfezionamento, Parkinson Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Experimental Medicine and Pathology, La Sapienza University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Istituti Clinici di Perfezionamento, Parkinson Institute, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS CSS‐Mendel Institute, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Mutation</title><title level="j" type="abbrev">Hum. Mutat.</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2007-01">2007-01</date><biblScope unit="volume">28</biblScope><biblScope unit="issue">1</biblScope><biblScope unit="page" from="98">98</biblScope><biblScope unit="page" to="98">98</biblScope></imprint><idno type="ISSN">1059-7794</idno></series><idno type="istex">58A993F6353C009A2D8838DC48E37CF1A91577FE</idno><idno type="DOI">10.1002/humu.9472</idno><idno type="ArticleID">HUMU9472</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PINK1</term><term>Parkinson disease</term><term>autosomal recessive parkinsonism</term><term>gene deletion</term><term>genomic rearrangement</term><term>splicing mutation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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. © 2006 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li><li>Lombardie</li></region><settlement><li>Milan</li><li>Rome</li></settlement></list><tree><country name="Italie"><region name="Latium"><name sortKey="Marongiu, Roberta" sort="Marongiu, Roberta" uniqKey="Marongiu R" first="Roberta" last="Marongiu">Roberta Marongiu</name></region><name sortKey="Antonini, Angelo" sort="Antonini, Angelo" uniqKey="Antonini A" first="Angelo" last="Antonini">Angelo Antonini</name><name sortKey="Benti, Riccardo" sort="Benti, Riccardo" uniqKey="Benti R" first="Riccardo" last="Benti">Riccardo Benti</name><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><name sortKey="Brancati, Francesco" sort="Brancati, Francesco" uniqKey="Brancati F" first="Francesco" last="Brancati">Francesco Brancati</name><name sortKey="Capalbo, Anna" sort="Capalbo, Anna" uniqKey="Capalbo A" first="Anna" last="Capalbo">Anna Capalbo</name><name sortKey="Ceccarini, Caterina" sort="Ceccarini, Caterina" uniqKey="Ceccarini C" first="Caterina" last="Ceccarini">Caterina Ceccarini</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Goldwurm, Stefano" sort="Goldwurm, Stefano" uniqKey="Goldwurm S" first="Stefano" last="Goldwurm">Stefano Goldwurm</name><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name><name sortKey="Marongiu, Roberta" sort="Marongiu, Roberta" uniqKey="Marongiu R" first="Roberta" last="Marongiu">Roberta Marongiu</name><name sortKey="Pezzoli, Gianni" sort="Pezzoli, Gianni" uniqKey="Pezzoli G" first="Gianni" last="Pezzoli">Gianni Pezzoli</name><name sortKey="Scarciolla, Oronzo" sort="Scarciolla, Oronzo" uniqKey="Scarciolla O" first="Oronzo" last="Scarciolla">Oronzo Scarciolla</name><name sortKey="Scarciolla, Oronzo" sort="Scarciolla, Oronzo" uniqKey="Scarciolla O" first="Oronzo" last="Scarciolla">Oronzo Scarciolla</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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