MovDisordV3, PascalFrancis, Curation, bibRecord, 002164

Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series

Identifieur interne : 002164 ( PascalFrancis/Curation ); précédent : 002163; suivant : 002165

Sequencing 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.

RBID : Pascal:10-0233145

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Séquence nucléotide, Séquençage, Ataxie spinocérébelleuse, Inositol, Récepteur biologique.

English descriptors

KwdEn :
- Biological receptor, Inositol, Nervous system diseases, Nucleotide sequence, Sequencing, Spinocerebellar ataxia.

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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A11	`01`	`1`		`@1 VAN DE LEEMPUT (Joyce)`
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A11	`03`	`1`		`@1 RAFFERTY (Ian)`
A11	`04`	`1`		`@1 BRAS (Jose M.)`
A11	`05`	`1`		`@1 GIUNTI (Paola)`
A11	`06`	`1`		`@1 FISHER (Elizabeth Mc)`
A11	`07`	`1`		`@1 HARDY (John A.)`
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A20				`@1 771-773`
A21				`@1 2010`
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C01	`01`		`ENG`	@0 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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C03	`02`	`X`	`FRE`	`@0 Séquence nucléotide @5 09`
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C03	`04`	`X`	`SPA`	`@0 Ataxia spinocerebelosa @2 NM @5 11`
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C07	`01`	`X`	`FRE`	`@0 Maladie dégénérative @5 37`
C07	`01`	`X`	`ENG`	`@0 Degenerative disease @5 37`
C07	`01`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 37`
C07	`02`	`X`	`FRE`	`@0 Maladie héréditaire @5 38`
C07	`02`	`X`	`ENG`	`@0 Genetic disease @5 38`
C07	`02`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 38`
C07	`03`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 39`
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Pascal:10-0233145

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series</title>
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<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House</s1>
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<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>
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<author><name sortKey="Rafferty, Ian" sort="Rafferty, Ian" uniqKey="Rafferty I" first="Ian" last="Rafferty">Ian Rafferty</name>
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<author><name sortKey="Giunti, Paola" sort="Giunti, Paola" uniqKey="Giunti P" first="Paola" last="Giunti">Paola Giunti</name>
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<s2>London</s2>
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<author><name sortKey="Fisher, Elizabeth Mc" sort="Fisher, Elizabeth Mc" uniqKey="Fisher E" first="Elizabeth Mc" last="Fisher">Elizabeth Mc Fisher</name>
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<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="1"><inist:fA14 i1="02"><s1>Department of Molecular Neuroscience, Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House</s1>
<s2>London</s2>
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<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="1"><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>
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<sZ>3 aut.</sZ>
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</author>
<author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name>
<affiliation wicri:level="1"><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>
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<country>Royaume-Uni</country>
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</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>
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<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>
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</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>
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<fA06><s2>6</s2>
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<fA08 i1="01" i2="1" l="ENG"><s1>Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>VAN DE LEEMPUT (Joyce)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>WAVRANT-DE VRIEZE (Fabienne)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>RAFFERTY (Ian)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>BRAS (Jose M.)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>GIUNTI (Paola)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>FISHER (Elizabeth Mc)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>HARDY (John A.)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>SINGLETON (Andrew B.)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>HOULDEN (Henry)</s1>
</fA11>
<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>
</fA14>
<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>
</fA14>
<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>
</fA14>
<fA20><s1>771-773</s1>
</fA20>
<fA21><s1>2010</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000181078480170</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2010 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>8 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>10-0233145</s0>
</fA47>
<fA60><s1>P</s1>
<s3>CC</s3>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Séquence nucléotide</s0>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Nucleotide sequence</s0>
<s5>09</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Secuencia nucleótido</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Séquençage</s0>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Sequencing</s0>
<s5>10</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Sequencing</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Ataxie spinocérébelleuse</s0>
<s2>NM</s2>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Spinocerebellar ataxia</s0>
<s2>NM</s2>
<s5>11</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Ataxia spinocerebelosa</s0>
<s2>NM</s2>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Inositol</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>12</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Inositol</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>12</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Inositol</s0>
<s2>NK</s2>
<s2>FR</s2>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Récepteur biologique</s0>
<s5>13</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Biological receptor</s0>
<s5>13</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Receptor biológico</s0>
<s5>13</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>39</s5>
</fC07>
<fN21><s1>158</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series

Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series

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