THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations
Identifieur interne : 002C21 ( PascalFrancis/Curation ); précédent : 002C20; suivant : 002C22THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations
Auteurs : Georgia Xiromerisiou [Royaume-Uni, Grèce] ; Henry Houlden [Royaume-Uni] ; Nikolaos Scarmeas [États-Unis, Grèce] ; Maria Stamelou [Royaume-Uni] ; Eleanna Kara [Royaume-Uni] ; John Hardy [Royaume-Uni] ; Andrew J. Lees [Royaume-Uni] ; Prasad Korlipara [Royaume-Uni] ; Patricia Limousin [Royaume-Uni] ; Reema Paudel [Royaume-Uni] ; Georgios M. Hadjigeorgiou [Grèce] ; Kailash P. Bhatia [Royaume-Uni]Source :
- Movement disorders [ 0885-3185 ] ; 2012.
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Abstract
THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations</title><author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1><s2>Larissa</s2><s3>GRC</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Grèce</country></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Taub Institute, Sergievsky Center, Department of Neurology, Columbia University</s1><s2>New York, New York</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Medical School of National and Kapodistrian University of Athens</s1><s2>Athens</s2><s3>GRC</s3><sZ>3 aut.</sZ></inist:fA14><country>Grèce</country></affiliation></author><author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Kara, Eleanna" sort="Kara, Eleanna" uniqKey="Kara E" first="Eleanna" last="Kara">Eleanna Kara</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London</s1><s2>London</s2><s3>GBR</s3><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1><s2>Larissa</s2><s3>GRC</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Grèce</country></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">12-0369633</idno><date when="2012">2012</date><idno type="stanalyst">PASCAL 12-0369633 INIST</idno><idno type="RBID">Pascal:12-0369633</idno><idno type="wicri:Area/PascalFrancis/Corpus">000093</idno><idno type="wicri:Area/PascalFrancis/Curation">002C21</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations</title><author><name sortKey="Xiromerisiou, Georgia" sort="Xiromerisiou, Georgia" uniqKey="Xiromerisiou G" first="Georgia" last="Xiromerisiou">Georgia Xiromerisiou</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1><s2>Larissa</s2><s3>GRC</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Grèce</country></affiliation></author><author><name sortKey="Houlden, Henry" sort="Houlden, Henry" uniqKey="Houlden H" first="Henry" last="Houlden">Henry Houlden</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Scarmeas, Nikolaos" sort="Scarmeas, Nikolaos" uniqKey="Scarmeas N" first="Nikolaos" last="Scarmeas">Nikolaos Scarmeas</name><affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Taub Institute, Sergievsky Center, Department of Neurology, Columbia University</s1><s2>New York, New York</s2><s3>USA</s3><sZ>3 aut.</sZ></inist:fA14><country>États-Unis</country></affiliation><affiliation wicri:level="1"><inist:fA14 i1="06"><s1>Department of Neurology, Medical School of National and Kapodistrian University of Athens</s1><s2>Athens</s2><s3>GRC</s3><sZ>3 aut.</sZ></inist:fA14><country>Grèce</country></affiliation></author><author><name sortKey="Stamelou, Maria" sort="Stamelou, Maria" uniqKey="Stamelou M" first="Maria" last="Stamelou">Maria Stamelou</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Kara, Eleanna" sort="Kara, Eleanna" uniqKey="Kara E" first="Eleanna" last="Kara">Eleanna Kara</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Lees, Andrew J" sort="Lees, Andrew J" uniqKey="Lees A" first="Andrew J." last="Lees">Andrew J. Lees</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Korlipara, Prasad" sort="Korlipara, Prasad" uniqKey="Korlipara P" first="Prasad" last="Korlipara">Prasad Korlipara</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Limousin, Patricia" sort="Limousin, Patricia" uniqKey="Limousin P" first="Patricia" last="Limousin">Patricia Limousin</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London</s1><s2>London</s2><s3>GBR</s3><sZ>9 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Paudel, Reema" sort="Paudel, Reema" uniqKey="Paudel R" first="Reema" last="Paudel">Reema Paudel</name><affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author><author><name sortKey="Hadjigeorgiou, Georgios M" sort="Hadjigeorgiou, Georgios M" uniqKey="Hadjigeorgiou G" first="Georgios M." last="Hadjigeorgiou">Georgios M. Hadjigeorgiou</name><affiliation wicri:level="1"><inist:fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1><s2>Larissa</s2><s3>GRC</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Grèce</country></affiliation></author><author><name sortKey="Bhatia, Kailash P" sort="Bhatia, Kailash P" uniqKey="Bhatia K" first="Kailash P." last="Bhatia">Kailash P. Bhatia</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></inist:fA14><country>Royaume-Uni</country></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Dystonia</term><term>Genotype</term><term>Mutation</term><term>Nervous system diseases</term><term>Phenotype</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dystonie</term><term>Pathologie du système nerveux</term><term>Mutation</term><term>Phénotype</term><term>Génotype</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations.</div></front></TEI><inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0></fA01><fA03 i2="1"><s0>Mov. disord.</s0></fA03><fA05><s2>27</s2></fA05><fA06><s2>10</s2></fA06><fA08 i1="01" i2="1" l="ENG"><s1>THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations</s1></fA08><fA11 i1="01" i2="1"><s1>XIROMERISIOU (Georgia)</s1></fA11><fA11 i1="02" i2="1"><s1>HOULDEN (Henry)</s1></fA11><fA11 i1="03" i2="1"><s1>SCARMEAS (Nikolaos)</s1></fA11><fA11 i1="04" i2="1"><s1>STAMELOU (Maria)</s1></fA11><fA11 i1="05" i2="1"><s1>KARA (Eleanna)</s1></fA11><fA11 i1="06" i2="1"><s1>HARDY (John)</s1></fA11><fA11 i1="07" i2="1"><s1>LEES (Andrew J.)</s1></fA11><fA11 i1="08" i2="1"><s1>KORLIPARA (Prasad)</s1></fA11><fA11 i1="09" i2="1"><s1>LIMOUSIN (Patricia)</s1></fA11><fA11 i1="10" i2="1"><s1>PAUDEL (Reema)</s1></fA11><fA11 i1="11" i2="1"><s1>HADJIGEORGIOU (Georgios M.)</s1></fA11><fA11 i1="12" i2="1"><s1>BHATIA (Kailash P.)</s1></fA11><fA14 i1="01"><s1>Department of Molecular Neuroscience and Reta Lila Weston Institute, University College London Institute of Neurology</s1><s2>London, London</s2><s3>GBR</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>10 aut.</sZ></fA14><fA14 i1="02"><s1>Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology</s1><s2>London</s2><s3>GBR</s3><sZ>4 aut.</sZ><sZ>8 aut.</sZ><sZ>12 aut.</sZ></fA14><fA14 i1="03"><s1>Unit of Functional Neurosurgery, Sobell Department of Motor Neuroscience and Movement Disorders, University College London Institute of Neurology, University College London</s1><s2>London</s2><s3>GBR</s3><sZ>9 aut.</sZ></fA14><fA14 i1="04"><s1>Department of Neurology, Faculty of Medicine University of Thessaly</s1><s2>Larissa</s2><s3>GRC</s3><sZ>1 aut.</sZ><sZ>11 aut.</sZ></fA14><fA14 i1="05"><s1>Taub Institute, Sergievsky Center, Department of Neurology, Columbia University</s1><s2>New York, New York</s2><s3>USA</s3><sZ>3 aut.</sZ></fA14><fA14 i1="06"><s1>Department of Neurology, Medical School of National and Kapodistrian University of Athens</s1><s2>Athens</s2><s3>GRC</s3><sZ>3 aut.</sZ></fA14><fA20><s1>1290-1294</s1></fA20><fA21><s1>2012</s1></fA21><fA23 i1="01"><s0>ENG</s0></fA23><fA43 i1="01"><s1>INIST</s1><s2>20953</s2><s5>354000502011860170</s5></fA43><fA44><s0>0000</s0><s1>© 2012 INIST-CNRS. All rights reserved.</s1></fA44><fA45><s0>43 ref.</s0></fA45><fA47 i1="01" i2="1"><s0>12-0369633</s0></fA47><fA60><s1>P</s1></fA60><fA61><s0>A</s0></fA61><fA64 i1="01" i2="1"><s0>Movement disorders</s0></fA64><fA66 i1="01"><s0>USA</s0></fA66><fC01 i1="01" l="ENG"><s0>THAP1 mutations have been shown to be the cause of DYT6. A number of different mutation types and locations in the THAP1 gene have been associated with a range of severity and dystonia phenotypes, but, as yet, it has been difficult to identify clear genotype phenotype patterns. Here, we screened the THAP1 gene in a further series of dystonia cases and evaluated the mutation pathogenicity in this series as well as previously reported mutations to investigate possible phenotype-genotype correlations. THAP1 mutations have been identified throughout the coding region of the gene, with the greatest concentration of variants localized to the THAP1 domain. In the additional cases analyzed here, a further two mutations were found. No obvious, indisputable genotype-phenotype correlation emerged from these data. However, we managed to find a correlation between the pathogenicity of mutations, distribution, and age of onset of dystonia. THAP1 mutations are an important cause of dystonia, but, as yet, no clear genotype-phenotype correlations have been identified. Greater mutation numbers in different populations will be important and mutation-specific functional studies will be essential to identify the pathogenicity of the various THAP1 mutations.</s0></fC01><fC02 i1="01" i2="X"><s0>002B17</s0></fC02><fC02 i1="02" i2="X"><s0>002B17H</s0></fC02><fC03 i1="01" i2="X" l="FRE"><s0>Dystonie</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="ENG"><s0>Dystonia</s0><s5>01</s5></fC03><fC03 i1="01" i2="X" l="SPA"><s0>Distonía</s0><s5>01</s5></fC03><fC03 i1="02" i2="X" l="FRE"><s0>Pathologie du système nerveux</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="ENG"><s0>Nervous system diseases</s0><s5>02</s5></fC03><fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso patología</s0><s5>02</s5></fC03><fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0><s5>09</s5></fC03><fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0><s5>09</s5></fC03><fC03 i1="04" i2="X" l="FRE"><s0>Phénotype</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="ENG"><s0>Phenotype</s0><s5>10</s5></fC03><fC03 i1="04" i2="X" l="SPA"><s0>Fenotipo</s0><s5>10</s5></fC03><fC03 i1="05" i2="X" l="FRE"><s0>Génotype</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="ENG"><s0>Genotype</s0><s5>11</s5></fC03><fC03 i1="05" i2="X" l="SPA"><s0>Genotipo</s0><s5>11</s5></fC03><fC07 i1="01" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0><s5>37</s5></fC07><fC07 i1="01" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0><s5>37</s5></fC07><fC07 i1="02" i2="X" l="FRE"><s0>Mouvement involontaire</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="ENG"><s0>Involuntary movement</s0><s5>38</s5></fC07><fC07 i1="02" i2="X" l="SPA"><s0>Movimiento involuntario</s0><s5>38</s5></fC07><fC07 i1="03" i2="X" l="FRE"><s0>Pathologie du muscle strié</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="ENG"><s0>Striated muscle disease</s0><s5>39</s5></fC07><fC07 i1="03" i2="X" l="SPA"><s0>Músculo estriado patología</s0><s5>39</s5></fC07><fC07 i1="04" i2="X" l="FRE"><s0>Trouble neurologique</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="ENG"><s0>Neurological disorder</s0><s5>41</s5></fC07><fC07 i1="04" i2="X" l="SPA"><s0>Trastorno neurológico</s0><s5>41</s5></fC07><fC07 i1="05" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="ENG"><s0>Cerebral disorder</s0><s5>42</s5></fC07><fC07 i1="05" i2="X" l="SPA"><s0>Encéfalo patología</s0><s5>42</s5></fC07><fC07 i1="06" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0><s5>43</s5></fC07><fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0><s5>43</s5></fC07><fN21><s1>289</s1></fN21><fN44 i1="01"><s1>OTO</s1></fN44><fN82><s1>OTO</s1></fN82></pA></standard></inist></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= THAP1 Mutations And Dystonia Phenotypes: Genotype Phenotype Correlations
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