Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series
Identifieur interne : 002427 ( Main/Merge ); précédent : 002426; suivant : 002428Sequencing 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 Vrieze [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.
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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 (ITPRI) 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 ITPRI 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 ITPRI are at best a rare cause of ADCA III.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="03"><s1>Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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 De Vrieze, Fabienne" sort="Wavrant De Vrieze, Fabienne" uniqKey="Wavrant De Vrieze F" first="Fabienne" last="Wavrant-De Vrieze">Fabienne Wavrant-De Vrieze</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="03"><s1>Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">10-0233145</idno><date when="2010">2010</date><idno type="stanalyst">PASCAL 10-0233145 INIST</idno><idno type="RBID">Pascal:10-0233145</idno><idno type="wicri:Area/PascalFrancis/Corpus">000B55</idno><idno type="wicri:Area/PascalFrancis/Curation">002164</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">000840</idno><idno type="wicri:doubleKey">0885-3185:2010:Van De Leemput J:sequencing:analysis:of</idno><idno type="wicri:Area/Main/Merge">002427</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><region type="state">Maryland</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="03"><s1>Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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 De Vrieze, Fabienne" sort="Wavrant De Vrieze, Fabienne" uniqKey="Wavrant De Vrieze F" first="Fabienne" last="Wavrant-De Vrieze">Fabienne Wavrant-De Vrieze</name><affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="03"><s1>Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>6 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><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"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1><s2>Bethesda, Maryland</s2><s3>USA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>8 aut.</sZ></inist:fA14><country>États-Unis</country><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"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House</s1><s2>London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Biological receptor</term><term>Inositol</term><term>Nervous system diseases</term><term>Nucleotide sequence</term><term>Sequencing</term><term>Spinocerebellar ataxia</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du système nerveux</term><term>Séquence nucléotide</term><term>Séquençage</term><term>Ataxie spinocérébelleuse</term><term>Inositol</term><term>Récepteur biologique</term></keywords></textClass></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 (ITPRI) 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 ITPRI 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 ITPRI are at best a rare cause of ADCA III.</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 De Vrieze, Fabienne" sort="Wavrant De Vrieze, Fabienne" uniqKey="Wavrant De Vrieze F" first="Fabienne" last="Wavrant-De Vrieze">Fabienne Wavrant-De Vrieze</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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