Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.
Identifieur interne : 001988 ( Ncbi/Checkpoint ); précédent : 001987; suivant : 001989Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.
Auteurs : Dagmar Nolte [Allemagne] ; Melanie Landendinger ; Eberhard Schmitt ; Ulrich MüllerSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2007.
Descripteurs français
- Wicri :
- geographic : Allemagne.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein Kinase C.
- geographic : Germany.
- classification : Spinocerebellar Ataxias.
- genetics : Exons, Point Mutation, Spinocerebellar Ataxias.
- DNA Mutational Analysis, Humans, Male, Middle Aged, Pedigree, Rare Diseases, Signal Transduction.
Abstract
We describe a novel mutation in the gene coding for protein kinase C gamma (PRKCG) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of PRKCG and results in a substitution of glycine by valine (G63V) in the evolutionarily highly conserved cysteine-rich region 1/C1 domain of PRKCG. Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG.
DOI: 10.1002/mds.21269
PubMed: 17149711
Affiliations:
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pubmed:17149711Le document en format XML
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<author><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name>
<affiliation wicri:level="1"><nlm:affiliation>Institut für Humangenetik, Justus-Liebig Universität Giessen, Germany. dagmar.nolte@humangenetik.med.uni-giessen.de</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Institut für Humangenetik, Justus-Liebig Universität Giessen</wicri:regionArea>
<wicri:noRegion>Justus-Liebig Universität Giessen</wicri:noRegion>
<wicri:noRegion>Justus-Liebig Universität Giessen</wicri:noRegion>
<wicri:noRegion>Justus-Liebig Universität Giessen</wicri:noRegion>
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<author><name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name>
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<author><name sortKey="Schmitt, Eberhard" sort="Schmitt, Eberhard" uniqKey="Schmitt E" first="Eberhard" last="Schmitt">Eberhard Schmitt</name>
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<author><name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family.</title>
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<author><name sortKey="Landendinger, Melanie" sort="Landendinger, Melanie" uniqKey="Landendinger M" first="Melanie" last="Landendinger">Melanie Landendinger</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Middle Aged</term>
<term>Pedigree</term>
<term>Point Mutation (genetics)</term>
<term>Protein Kinase C (genetics)</term>
<term>Rare Diseases</term>
<term>Signal Transduction</term>
<term>Spinocerebellar Ataxias (classification)</term>
<term>Spinocerebellar Ataxias (genetics)</term>
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<front><div type="abstract" xml:lang="en">We describe a novel mutation in the gene coding for protein kinase C gamma (PRKCG) in patients of a German family affected with slowly progressive gait ataxia, dysarthria, and nystagmus. The G/T missense mutation occurred in exon 2 of PRKCG and results in a substitution of glycine by valine (G63V) in the evolutionarily highly conserved cysteine-rich region 1/C1 domain of PRKCG. Among the 20 mutations described to date, this is the first mutation located in exon 2 of PRKCG.</div>
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<name sortKey="Muller, Ulrich" sort="Muller, Ulrich" uniqKey="Muller U" first="Ulrich" last="Müller">Ulrich Müller</name>
<name sortKey="Schmitt, Eberhard" sort="Schmitt, Eberhard" uniqKey="Schmitt E" first="Eberhard" last="Schmitt">Eberhard Schmitt</name>
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<country name="Allemagne"><noRegion><name sortKey="Nolte, Dagmar" sort="Nolte, Dagmar" uniqKey="Nolte D" first="Dagmar" last="Nolte">Dagmar Nolte</name>
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