MovDisordV3, Pmc, Checkpoint, bibRecord, 000304

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

Identifieur interne : 000304 ( Pmc/Checkpoint ); précédent : 000303; suivant : 000305

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

Auteurs : J. Van De Leemput [États-Unis, Royaume-Uni] ; F. Wavrant-De Vrièze [États-Unis] ; I. Rafferty [États-Unis] ; Jm Bras [États-Unis] ; P. Giunti [Royaume-Uni] ; Emc Fisher [Royaume-Uni] ; J. Hardy [Royaume-Uni] ; Ab Singleton [États-Unis] ; H. Houlden [Royaume-Uni]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2010.

RBID : PMC:2864955

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 non-coding 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.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2864955

DOI: 10.1002/mds.22970
PubMed: 20437544
PubMed Central: 2864955

Affiliations:

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<author><name sortKey="Houlden, H" sort="Houlden, H" uniqKey="Houlden H" first="H" last="Houlden">H. Houlden</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<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>
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<title-group><article-title>Sequencing analysis of the <italic>ITPR1</italic>
 gene in a pure autosomal dominant spinocerebellar ataxia series</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>van de Leemput</surname>
<given-names>J</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
<xref rid="A2" ref-type="aff">2</xref>
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<contrib contrib-type="author"><name><surname>Singleton</surname>
<given-names>AB</given-names>
</name>
<xref rid="A1" ref-type="aff">1</xref>
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<contrib contrib-type="author"><name><surname>Houlden</surname>
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<aff id="A1"><label>1</label>
 Laboratory of Neurogenetics, National Institute on Aging, National Institutes ofHealth, 35 Convent Drive, 20892, Bethesda, MD, USA</aff>
<aff id="A2"><label>2</label>
 Department of Molecular Neuroscience and Reta Lila Weston Laboratories, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</aff>
<aff id="A3"><label>3</label>
 Department of Neurodegenerative Disease, Institute of Neurology, UCL, Queen Square House, London WC1N 3BG, United Kingdom</aff>
<author-notes><corresp id="FN1">Correspondence: Dr. Andrew Singleton, Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, 35 Convent Drive, Bethesda, MD 20892, USA, <email>singleta@mail.nih.gov</email>
 telephone: 1 301 451 6079, fax: 1 301 451 7295</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>30</day>
<month>11</month>
<year>2009</year>
</pub-date>
<pub-date pub-type="ppub"><day>30</day>
<month>4</month>
<year>2010</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>30</day>
<month>4</month>
<year>2011</year>
</pub-date>
<volume>25</volume>
<issue>6</issue>
<fpage>763</fpage>
<lpage>765</lpage>
<abstract><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>
</abstract>
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<kwd>inositol-1,4,5-triphosphate receptor type 1</kwd>
</kwd-group>
<contract-num rid="AG1">Z01 AG000957-06
				||AG</contract-num>
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<affiliations><list><country><li>Royaume-Uni</li>
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<name sortKey="Singleton, Ab" sort="Singleton, Ab" uniqKey="Singleton A" first="Ab" last="Singleton">Ab Singleton</name>
<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>
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<country name="Royaume-Uni"><noRegion><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>
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<name sortKey="Giunti, P" sort="Giunti, P" uniqKey="Giunti P" first="P" last="Giunti">P. Giunti</name>
<name sortKey="Hardy, J" sort="Hardy, J" uniqKey="Hardy J" first="J" last="Hardy">J. Hardy</name>
<name sortKey="Houlden, H" sort="Houlden, H" uniqKey="Houlden H" first="H" last="Houlden">H. Houlden</name>
<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>
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   |texte=   Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series
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	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

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

Source :

Abstract

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