Sequencing Analysis of the ITPR1 Gene in a Pure Autosomal Dominant Spinocerebellar Ataxia Series
Identifieur interne : 002164 ( PascalFrancis/Curation ); précédent : 002163; suivant : 002165Sequencing 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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- KwdEn :
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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<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>
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<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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