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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pubmed:20437544Le document en format XML
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<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>
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<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>
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<CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2001 Nov 27;57(10):1913-5</RefSource>
<PMID Version="1">11723290</PMID>
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<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>
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<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>
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</CommentsCorrections>
<CommentsCorrections RefType="Cites"><RefSource>Neurology. 2008 Aug 19;71(8):547-51</RefSource>
<PMID Version="1">18579805</PMID>
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