Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series
Identifieur interne : 001E46 ( Main/Merge ); précédent : 001E45; suivant : 001E47Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series
Auteurs : Joyce Van De Leemput [États-Unis, Royaume-Uni] ; Fabienne Wavrant-De Vrièze [États-Unis] ; Ian Rafferty [États-Unis] ; Jose M. Bras [États-Unis] ; Paola Giunti [Royaume-Uni] ; Elizabeth Mc Fisher [Royaume-Uni] ; John A. Hardy [Royaume-Uni] ; Andrew B. Singleton [États-Unis] ; Henry Houlden [Royaume-Uni]Source :
- Movement Disorders [ 0885-3185 ] ; 2010-04-30.
English descriptors
- KwdEn :
- Adolescent, Adult, Cohort Studies, Exons (genetics), Female, Humans, Inositol 1,4,5-Trisphosphate Receptors (genetics), Male, Middle Aged, Point Mutation (genetics), SCA15, Sequence Analysis, DNA (methods), Spinocerebellar Ataxias (classification), Spinocerebellar Ataxias (genetics), Young Adult, ataxia, genetics, inositol‐1,4,5‐triphosphate receptor type 1, spinocerebellar.
- MESH :
- chemical , genetics : Inositol 1,4,5-Trisphosphate Receptors.
- classification : Spinocerebellar Ataxias.
- genetics : Exons, Point Mutation, Spinocerebellar Ataxias.
- methods : Sequence Analysis, DNA.
- Adolescent, Adult, Cohort Studies, Female, Humans, Male, Middle Aged, Young Adult.
Abstract
Spinocerebellar ataxia type 15 and 16 (SCA15/16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2–3pter and subsequently full or partial deletions in the inositol 1,4,5‐triphosphate receptor type 1 (ITPR1) gene were identified in several ADCA III families that segregated with the disease. A single missense coding variant has been described, but the pathogenicity of this change has not been proven. We sequenced the entire coding region and flanking regions of ITPR1 in unrelated ADCA III families (n = 38) that were negative for large deletions on whole genome arrays, and for which SCAs 1, 2, 3, 6, 7, 8, 11, 12, 14, 17 and the Friedreich's ataxia expansion were excluded in all probands. Mutation at SCA5, 10, and 27 was also excluded in some families. A number of coding and noncoding polymorphisms were identified but no ITPR1 mutations were found. The results indicate that point mutations in ITPR1 are at best a rare cause of ADCA III. © 2010 Movement Disorder Society
Url:
- https://api.istex.fr/document/506D5A36CBDC63829848D912DA974329B0228829/fulltext/pdf
- http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2864955
DOI: 10.1002/mds.22970
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-04-30">2010-04-30</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="771">771</biblScope><biblScope unit="page" to="773">773</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">506D5A36CBDC63829848D912DA974329B0228829</idno><idno type="DOI">10.1002/mds.22970</idno><idno type="ArticleID">MDS22970</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Cohort Studies</term><term>Exons (genetics)</term><term>Female</term><term>Humans</term><term>Inositol 1,4,5-Trisphosphate Receptors (genetics)</term><term>Male</term><term>Middle Aged</term><term>Point Mutation (genetics)</term><term>SCA15</term><term>Sequence Analysis, DNA (methods)</term><term>Spinocerebellar Ataxias (classification)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Young Adult</term><term>ataxia</term><term>genetics</term><term>inositol‐1,4,5‐triphosphate receptor type 1</term><term>spinocerebellar</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Inositol 1,4,5-Trisphosphate Receptors</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Point Mutation</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Spinocerebellar ataxia type 15 and 16 (SCA15/16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2–3pter and subsequently full or partial deletions in the inositol 1,4,5‐triphosphate receptor type 1 (ITPR1) gene were identified in several ADCA III families that segregated with the disease. A single missense coding variant has been described, but the pathogenicity of this change has not been proven. We sequenced the entire coding region and flanking regions of ITPR1 in unrelated ADCA III families (n = 38) that were negative for large deletions on whole genome arrays, and for which SCAs 1, 2, 3, 6, 7, 8, 11, 12, 14, 17 and the Friedreich's ataxia expansion were excluded in all probands. Mutation at SCA5, 10, and 27 was also excluded in some families. A number of coding and noncoding polymorphisms were identified but no ITPR1 mutations were found. The results indicate that point mutations in ITPR1 are at best a rare cause of ADCA III. © 2010 Movement Disorder Society</div></front></TEI><double doi="10.1002/mds.22970"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series</title><author><name sortKey="Van De Leemput, Joyce" sort="Van De Leemput, Joyce" uniqKey="Van De Leemput J" first="Joyce" last="Van De Leemput">Joyce Van De Leemput</name></author><author><name sortKey="Wavrant E Vrieze, Fabienne" sort="Wavrant E Vrieze, Fabienne" uniqKey="Wavrant E Vrieze F" first="Fabienne" last="Wavrant-De Vrièze">Fabienne Wavrant-De Vrièze</name></author><author><name sortKey="Rafferty, Ian" sort="Rafferty, Ian" uniqKey="Rafferty I" first="Ian" last="Rafferty">Ian Rafferty</name></author><author><name sortKey="Bras, Jose M" sort="Bras, Jose M" uniqKey="Bras J" first="Jose M." last="Bras">Jose M. Bras</name></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name></author><author><name sortKey="Fisher, Elizabeth Mc" sort="Fisher, Elizabeth Mc" uniqKey="Fisher E" first="Elizabeth Mc" last="Fisher">Elizabeth Mc Fisher</name></author><author><name sortKey="Hardy, John A" sort="Hardy, John A" uniqKey="Hardy J" first="John A." last="Hardy">John A. Hardy</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:506D5A36CBDC63829848D912DA974329B0228829</idno><date when="2010" year="2010">2010</date><idno type="doi">10.1002/mds.22970</idno><idno type="url">https://api.istex.fr/document/506D5A36CBDC63829848D912DA974329B0228829/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000891</idno><idno type="wicri:Area/Istex/Curation">000891</idno><idno type="wicri:Area/Istex/Checkpoint">000689</idno><idno type="wicri:doubleKey">0885-3185:2010:Van De Leemput J:sequencing:analysis:of</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series</title><author><name sortKey="Van De Leemput, Joyce" sort="Van De Leemput, Joyce" uniqKey="Van De Leemput J" first="Joyce" last="Van De Leemput">Joyce Van De Leemput</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Wavrant E Vrieze, Fabienne" sort="Wavrant E Vrieze, Fabienne" uniqKey="Wavrant E Vrieze F" first="Fabienne" last="Wavrant-De Vrièze">Fabienne Wavrant-De Vrièze</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Rafferty, Ian" sort="Rafferty, Ian" uniqKey="Rafferty I" first="Ian" last="Rafferty">Ian Rafferty</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Bras, Jose M" sort="Bras, Jose M" uniqKey="Bras J" first="Jose M." last="Bras">Jose M. Bras</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Fisher, Elizabeth Mc" sort="Fisher, Elizabeth Mc" uniqKey="Fisher E" first="Elizabeth Mc" last="Fisher">Elizabeth Mc Fisher</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Hardy, John A" sort="Hardy, John A" uniqKey="Hardy J" first="John A." last="Hardy">John A. Hardy</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2010-04-30">2010-04-30</date><biblScope unit="vol">25</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="771">771</biblScope><biblScope unit="page" to="773">773</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">506D5A36CBDC63829848D912DA974329B0228829</idno><idno type="DOI">10.1002/mds.22970</idno><idno type="ArticleID">MDS22970</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>SCA15</term><term>ataxia</term><term>genetics</term><term>inositol‐1,4,5‐triphosphate receptor type 1</term><term>spinocerebellar</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Spinocerebellar ataxia type 15 and 16 (SCA15/16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2–3pter and subsequently full or partial deletions in the inositol 1,4,5‐triphosphate receptor type 1 (ITPR1) gene were identified in several ADCA III families that segregated with the disease. A single missense coding variant has been described, but the pathogenicity of this change has not been proven. We sequenced the entire coding region and flanking regions of ITPR1 in unrelated ADCA III families (n = 38) that were negative for large deletions on whole genome arrays, and for which SCAs 1, 2, 3, 6, 7, 8, 11, 12, 14, 17 and the Friedreich's ataxia expansion were excluded in all probands. Mutation at SCA5, 10, and 27 was also excluded in some families. A number of coding and noncoding polymorphisms were identified but no ITPR1 mutations were found. The results indicate that point mutations in ITPR1 are at best a rare cause of ADCA III. © 2010 Movement Disorder Society</div></front></TEI></ISTEX><PMC><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Sequencing analysis of the <italic>ITPR1</italic> gene in a pure autosomal dominant spinocerebellar ataxia series</title><author><name sortKey="Van De Leemput, J" sort="Van De Leemput, J" uniqKey="Van De Leemput J" first="J" last="Van De Leemput">J. Van De Leemput</name><affiliation wicri:level="2"><nlm:aff id="A1"> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A2"> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Wavrant De Vrieze, F" sort="Wavrant De Vrieze, F" uniqKey="Wavrant De Vrieze F" first="F" last="Wavrant-De Vrièze">F. Wavrant-De Vrièze</name><affiliation wicri:level="2"><nlm:aff id="A1"> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Rafferty, I" sort="Rafferty, I" uniqKey="Rafferty I" first="I" last="Rafferty">I. Rafferty</name><affiliation wicri:level="2"><nlm:aff id="A1"> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Bras, Jm" sort="Bras, Jm" uniqKey="Bras J" first="Jm" last="Bras">Jm Bras</name><affiliation wicri:level="2"><nlm:aff id="A1"> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Giunti, P" sort="Giunti, P" uniqKey="Giunti P" first="P" last="Giunti">P. Giunti</name><affiliation wicri:level="1"><nlm:aff id="A2"> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Fisher, Emc" sort="Fisher, Emc" uniqKey="Fisher E" first="Emc" last="Fisher">Emc Fisher</name><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Hardy, J" sort="Hardy, J" uniqKey="Hardy J" first="J" last="Hardy">J. Hardy</name><affiliation wicri:level="1"><nlm:aff id="A2"> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Singleton, Ab" sort="Singleton, Ab" uniqKey="Singleton A" first="Ab" last="Singleton">Ab Singleton</name><affiliation wicri:level="2"><nlm:aff id="A1"> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Houlden, H" sort="Houlden, H" uniqKey="Houlden H" first="H" last="Houlden">H. Houlden</name><affiliation wicri:level="1"><nlm:aff id="A2"> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">20437544</idno><idno type="pmc">2864955</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2864955</idno><idno type="RBID">PMC:2864955</idno><idno type="doi">10.1002/mds.22970</idno><date when="2010">2010</date><idno type="wicri:Area/Pmc/Corpus">000090</idno><idno type="wicri:Area/Pmc/Curation">000090</idno><idno type="wicri:Area/Pmc/Checkpoint">000304</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">001846</idno><idno type="wicri:Area/PubMed/Curation">001846</idno><idno type="wicri:Area/PubMed/Checkpoint">001616</idno><idno type="wicri:Area/Ncbi/Merge">002B56</idno><idno type="wicri:Area/Ncbi/Curation">002B56</idno><idno type="wicri:Area/Ncbi/Checkpoint">002B56</idno><idno type="wicri:doubleKey">0885-3185:2010:Van De Leemput J:sequencing:analysis:of</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Sequencing analysis of the <italic>ITPR1</italic> gene in a pure autosomal dominant spinocerebellar ataxia series</title><author><name sortKey="Van De Leemput, J" sort="Van De Leemput, J" uniqKey="Van De Leemput J" first="J" last="Van De Leemput">J. Van De Leemput</name><affiliation wicri:level="2"><nlm:aff id="A1"> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="1"><nlm:aff id="A2"> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Wavrant De Vrieze, F" sort="Wavrant De Vrieze, F" uniqKey="Wavrant De Vrieze F" first="F" last="Wavrant-De Vrièze">F. Wavrant-De Vrièze</name><affiliation wicri:level="2"><nlm:aff id="A1"> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Rafferty, I" sort="Rafferty, I" uniqKey="Rafferty I" first="I" last="Rafferty">I. Rafferty</name><affiliation wicri:level="2"><nlm:aff id="A1"> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Bras, Jm" sort="Bras, Jm" uniqKey="Bras J" first="Jm" last="Bras">Jm Bras</name><affiliation wicri:level="2"><nlm:aff id="A1"> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Giunti, P" sort="Giunti, P" uniqKey="Giunti P" first="P" last="Giunti">P. Giunti</name><affiliation wicri:level="1"><nlm:aff id="A2"> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Fisher, Emc" sort="Fisher, Emc" uniqKey="Fisher E" first="Emc" last="Fisher">Emc Fisher</name><affiliation wicri:level="1"><nlm:aff id="A3"> Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Hardy, J" sort="Hardy, J" uniqKey="Hardy J" first="J" last="Hardy">J. Hardy</name><affiliation wicri:level="1"><nlm:aff id="A2"> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author><author><name sortKey="Singleton, Ab" sort="Singleton, Ab" uniqKey="Singleton A" first="Ab" last="Singleton">Ab Singleton</name><affiliation wicri:level="2"><nlm:aff id="A1"> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea> Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Houlden, H" sort="Houlden, H" uniqKey="Houlden H" first="H" last="Houlden">H. Houlden</name><affiliation wicri:level="1"><nlm:aff id="A2"> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea> Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG</wicri:regionArea><wicri:noRegion>London WC1N 3BG</wicri:noRegion></affiliation></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Cohort Studies</term><term>Exons (genetics)</term><term>Female</term><term>Humans</term><term>Inositol 1,4,5-Trisphosphate Receptors (genetics)</term><term>Male</term><term>Middle Aged</term><term>Point Mutation (genetics)</term><term>Sequence Analysis, DNA (methods)</term><term>Spinocerebellar Ataxias (classification)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Inositol 1,4,5-Trisphosphate Receptors</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term><term>Point Mutation</term><term>Spinocerebellar Ataxias</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Sequence Analysis, DNA</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Spinocerebellar ataxia type 15 and 16 (SCA15/16) are autosomal dominant cerebellar ataxias that are slowly progressive with a predominantly pure ataxia phenotype (ADCA III). The locus for SCA15 was first mapped to 3p24.2–3pter and subsequently full or partial deletions in the <italic>inositol 1,4,5-triphosphate receptor type 1</italic> (<italic>ITPR1</italic>) gene were identified in several ADCA III families that segregated with the disease. A single missense coding variant has been described, but the pathogenicity of this change has not been proven. We sequenced the entire coding region and flanking regions of <italic>ITPR1</italic> in unrelated ADCA III families (<italic>n</italic>=38) that were negative for large deletions on whole genome arrays, and for which SCAs 1, 2, 3, 6, 7, 8, 11, 12, 14, 17 and the Friedreich’s ataxia expansion were excluded in all probands. Mutation at SCA5, 10 and 27 was also excluded in some families. A number of coding and non-coding polymorphisms were identified but no <italic>ITPR1</italic> mutations were found. The results indicate that point mutations in <italic>ITPR1</italic> are at best a rare cause of ADCA III.</p></div></front></TEI></PMC></double></record>Pour manipuler ce document sous Unix (Dilib)
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