Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.
Identifieur interne : 001616 ( PubMed/Checkpoint ); précédent : 001615; suivant : 001617Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.
Auteurs : Joyce Van De Leemput [États-Unis] ; Fabienne Wavrant-De Vrièze ; Ian Rafferty ; Jose M. Bras ; Paola Giunti ; Elizabeth M C. Fisher ; John A. Hardy ; Andrew B. Singleton ; Henry HouldenSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- 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.
DOI: 10.1002/mds.22970
PubMed: 20437544
Affiliations:
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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 M C" sort="Fisher, Elizabeth M C" uniqKey="Fisher E" first="Elizabeth M C" last="Fisher">Elizabeth M C. 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. 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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 M C" sort="Fisher, Elizabeth M C" uniqKey="Fisher E" first="Elizabeth M C" last="Fisher">Elizabeth M C. 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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2010" type="published">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">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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">20437544</PMID><DateCreated><Year>2010</Year><Month>05</Month><Day>03</Day></DateCreated><DateCompleted><Year>2010</Year><Month>07</Month><Day>28</Day></DateCompleted><DateRevised><Year>2015</Year><Month>03</Month><Day>25</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>25</Volume><Issue>6</Issue><PubDate><Year>2010</Year><Month>Apr</Month><Day>30</Day></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series.</ArticleTitle><Pagination><MedlinePgn>771-3</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.22970</ELocationID><Abstract><AbstractText>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.</AbstractText><CopyrightInformation>2010 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>van de Leemput</LastName><ForeName>Joyce</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20892, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wavrant-De Vrièze</LastName><ForeName>Fabienne</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Rafferty</LastName><ForeName>Ian</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Bras</LastName><ForeName>Jose M</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Giunti</LastName><ForeName>Paola</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Fisher</LastName><ForeName>Elizabeth M C</ForeName><Initials>EM</Initials></Author><Author ValidYN="Y"><LastName>Hardy</LastName><ForeName>John A</ForeName><Initials>JA</Initials></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew B</ForeName><Initials>AB</Initials></Author><Author ValidYN="Y"><LastName>Houlden</LastName><ForeName>Henry</ForeName><Initials>H</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>G-0907</GrantID><Agency>Parkinson's UK</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0500288</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0601943</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0701075</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>G0802760</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>Z01 AG000957-06</GrantID><Agency>Intramural NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052060">Research Support, N.I.H., Intramural</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C506926">ITPR1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D053496">Inositol 1,4,5-Trisphosphate Receptors</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2001 Nov 27;57(10):1913-5</RefSource><PMID Version="1">11723290</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Adv Neurol. 1993;61:1-14</RefSource><PMID Version="1">8421960</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Cerebellum. 2005;4(1):47-50</RefSource><PMID Version="1">15895559</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Brain. 2006 Jun;129(Pt 6):1357-70</RefSource><PMID Version="1">16613893</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>PLoS Genet. 2007 Jun;3(6):e108</RefSource><PMID Version="1">17590087</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 2008 Jan;45(1):32-5</RefSource><PMID Version="1">17932120</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>J Med Genet. 2008 Mar;45(3):192</RefSource><PMID Version="1">18310270</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2008 Aug 19;71(8):547-51</RefSource><PMID Version="1">18579805</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000293">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D015331">Cohort Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005091">Exons</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D053496">Inositol 1,4,5-Trisphosphate Receptors</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017354">Point Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017422">Sequence Analysis, DNA</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020754">Spinocerebellar Ataxias</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000145">classification</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D055815">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><OtherID Source="NLM">NIHMS162159</OtherID><OtherID Source="NLM">PMC2864955</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>5</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>5</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>7</Month><Day>29</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.22970</ArticleId><ArticleId IdType="pubmed">20437544</ArticleId><ArticleId IdType="pmc">PMC2864955</ArticleId><ArticleId IdType="mid">NIHMS162159</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>États-Unis</li></country></list><tree><noCountry><name sortKey="Bras, Jose M" sort="Bras, Jose M" uniqKey="Bras J" first="Jose M" last="Bras">Jose M. Bras</name><name sortKey="Fisher, Elizabeth M C" sort="Fisher, Elizabeth M C" uniqKey="Fisher E" first="Elizabeth M C" last="Fisher">Elizabeth M C. 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="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 Vrièze">Fabienne Wavrant-De Vrièze</name></noCountry><country name="États-Unis"><noRegion><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></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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