Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series
Identifieur interne : 001A10 ( Main/Exploration ); précédent : 001A09; suivant : 001A11Sequencing 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.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Adult, Biological receptor, Cohort Studies, Exons (genetics), Female, Humans, Inositol, Inositol 1,4,5-Trisphosphate Receptors (genetics), Male, Middle Aged, Nervous system diseases, Nucleotide sequence, Point Mutation (genetics), SCA15, Sequence Analysis, DNA (methods), Sequencing, Spinocerebellar Ataxias (classification), Spinocerebellar Ataxias (genetics), Spinocerebellar ataxia, 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
Affiliations:
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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>Adolescent</term><term>Adult</term><term>Biological receptor</term><term>Cohort Studies</term><term>Exons (genetics)</term><term>Female</term><term>Humans</term><term>Inositol</term><term>Inositol 1,4,5-Trisphosphate Receptors (genetics)</term><term>Male</term><term>Middle Aged</term><term>Nervous system diseases</term><term>Nucleotide sequence</term><term>Point Mutation (genetics)</term><term>SCA15</term><term>Sequence Analysis, DNA (methods)</term><term>Sequencing</term><term>Spinocerebellar Ataxias (classification)</term><term>Spinocerebellar Ataxias (genetics)</term><term>Spinocerebellar ataxia</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><keywords scheme="Pascal" xml:lang="fr"><term>Ataxie spinocérébelleuse</term><term>Inositol</term><term>Pathologie du système nerveux</term><term>Récepteur biologique</term><term>Séquence nucléotide</term><term>Séquençage</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><affiliations><list><country><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Grand Londres</li><li>Maryland</li></region><settlement><li>Londres</li></settlement></list><tree><country name="États-Unis"><region name="Maryland"><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></region><name sortKey="Bras, Jose M" sort="Bras, Jose M" uniqKey="Bras J" first="Jose M." last="Bras">Jose M. Bras</name><name sortKey="Rafferty, Ian" sort="Rafferty, Ian" uniqKey="Rafferty I" first="Ian" last="Rafferty">Ian Rafferty</name><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name><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></country><country name="Royaume-Uni"><region name="Angleterre"><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></region><name sortKey="Fisher, Elizabeth Mc" sort="Fisher, Elizabeth Mc" uniqKey="Fisher E" first="Elizabeth Mc" last="Fisher">Elizabeth Mc Fisher</name><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name><name sortKey="Hardy, John A" sort="Hardy, John A" uniqKey="Hardy J" first="John A." last="Hardy">John A. Hardy</name><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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