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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">JUNCTOPHILIN 3 (<italic>JPH3</italic>) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE</title><author><name sortKey="Krause, A" sort="Krause, A" uniqKey="Krause A" first="A" last="Krause">A. Krause</name><affiliation><nlm:aff id="A1">Division of Human Genetics, National Health Laboratory Service, Johannesburg South Africa</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Cl" sort="Mitchell, Cl" uniqKey="Mitchell C" first="Cl" last="Mitchell">Cl Mitchell</name><affiliation><nlm:aff id="A1">Division of Human Genetics, National Health Laboratory Service, Johannesburg South Africa</nlm:aff></affiliation></author><author><name sortKey="Essop, F" sort="Essop, F" uniqKey="Essop F" first="F" last="Essop">F. Essop</name><affiliation><nlm:aff id="A1">Division of Human Genetics, National Health Laboratory Service, Johannesburg South Africa</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff></affiliation></author><author><name sortKey="Tager, S" sort="Tager, S" uniqKey="Tager S" first="S" last="Tager">S. Tager</name><affiliation><nlm:aff id="A3">Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff></affiliation></author><author><name sortKey="Temlett, J" sort="Temlett, J" uniqKey="Temlett J" first="J" last="Temlett">J. Temlett</name><affiliation><nlm:aff id="A3">Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department Clinical Neurology, University of Adelaide and the Royal Adelaide Hospital, Adelaide, Australia</nlm:aff></affiliation></author><author><name sortKey="Stevanin, G" sort="Stevanin, G" uniqKey="Stevanin G" first="G" last="Stevanin">G. Stevanin</name><affiliation><nlm:aff id="A5">Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Ross, Ca" sort="Ross, Ca" uniqKey="Ross C" first="Ca" last="Ross">Ca Ross</name><affiliation><nlm:aff id="A7">Johns Hopkins University School of Medicine, Departments of Psychiatry, Neurology, Neuroscience, and Pharmacology and Molecular Sciences and Program in Cellular and Molecular Medicine, Baltimore, MD 21287</nlm:aff></affiliation></author><author><name sortKey="Rudnicki, Dd" sort="Rudnicki, Dd" uniqKey="Rudnicki D" first="Dd" last="Rudnicki">Dd Rudnicki</name><affiliation><nlm:aff id="A8">Johns Hopkins University School of Medicine, Departments of Psychiatry and Program in Cellular and Molecular Medicine, Baltimore, MD 21287</nlm:aff></affiliation></author><author><name sortKey="Margolis, Rl" sort="Margolis, Rl" uniqKey="Margolis R" first="Rl" last="Margolis">Rl Margolis</name><affiliation><nlm:aff id="A9">Johns Hopkins University School of Medicine, Departments of Psychiatry and Neurology and Program in Cellular and Molecular Medicine, Baltimore, MD 21287</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26079385</idno><idno type="pmc">4565761</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565761</idno><idno type="RBID">PMC:4565761</idno><idno type="doi">10.1002/ajmg.b.32332</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">001E33</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001E33</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">JUNCTOPHILIN 3 (<italic>JPH3</italic>) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE</title><author><name sortKey="Krause, A" sort="Krause, A" uniqKey="Krause A" first="A" last="Krause">A. Krause</name><affiliation><nlm:aff id="A1">Division of Human Genetics, National Health Laboratory Service, Johannesburg South Africa</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Cl" sort="Mitchell, Cl" uniqKey="Mitchell C" first="Cl" last="Mitchell">Cl Mitchell</name><affiliation><nlm:aff id="A1">Division of Human Genetics, National Health Laboratory Service, Johannesburg South Africa</nlm:aff></affiliation></author><author><name sortKey="Essop, F" sort="Essop, F" uniqKey="Essop F" first="F" last="Essop">F. Essop</name><affiliation><nlm:aff id="A1">Division of Human Genetics, National Health Laboratory Service, Johannesburg South Africa</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff></affiliation></author><author><name sortKey="Tager, S" sort="Tager, S" uniqKey="Tager S" first="S" last="Tager">S. Tager</name><affiliation><nlm:aff id="A3">Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff></affiliation></author><author><name sortKey="Temlett, J" sort="Temlett, J" uniqKey="Temlett J" first="J" last="Temlett">J. Temlett</name><affiliation><nlm:aff id="A3">Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff></affiliation><affiliation><nlm:aff id="A4">Department Clinical Neurology, University of Adelaide and the Royal Adelaide Hospital, Adelaide, Australia</nlm:aff></affiliation></author><author><name sortKey="Stevanin, G" sort="Stevanin, G" uniqKey="Stevanin G" first="G" last="Stevanin">G. Stevanin</name><affiliation><nlm:aff id="A5">Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Ross, Ca" sort="Ross, Ca" uniqKey="Ross C" first="Ca" last="Ross">Ca Ross</name><affiliation><nlm:aff id="A7">Johns Hopkins University School of Medicine, Departments of Psychiatry, Neurology, Neuroscience, and Pharmacology and Molecular Sciences and Program in Cellular and Molecular Medicine, Baltimore, MD 21287</nlm:aff></affiliation></author><author><name sortKey="Rudnicki, Dd" sort="Rudnicki, Dd" uniqKey="Rudnicki D" first="Dd" last="Rudnicki">Dd Rudnicki</name><affiliation><nlm:aff id="A8">Johns Hopkins University School of Medicine, Departments of Psychiatry and Program in Cellular and Molecular Medicine, Baltimore, MD 21287</nlm:aff></affiliation></author><author><name sortKey="Margolis, Rl" sort="Margolis, Rl" uniqKey="Margolis R" first="Rl" last="Margolis">Rl Margolis</name><affiliation><nlm:aff id="A9">Johns Hopkins University School of Medicine, Departments of Psychiatry and Neurology and Program in Cellular and Molecular Medicine, Baltimore, MD 21287</nlm:aff></affiliation></author></analytic><series><title level="j">American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics</title><idno type="ISSN">1552-4841</idno><idno type="eISSN">1552-485X</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder, characterized by abnormal movements, cognitive decline and psychiatric symptoms, caused by a CAG repeat expansion in the <italic>huntingtin</italic> (<italic>HTT</italic>) gene on chromosome 4p. A CAG/CTG repeat expansion in the <italic>junctophilin-3</italic> (<italic>JPH3</italic>) gene on chromosome 16q24.2 causes a Huntington disease-like phenotype (HDL2). All patients to date with HDL2 have some African ancestry. The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the <italic>JPH3</italic> mutation. In a sample of unrelated South African individuals referred for diagnostic HD testing, 62% (106/171) of white patients compared to only 36% (47/130) of black patients had an expansion in <italic>HTT</italic>. However, 15% (20/130) of black South African patients and no white patients (0/171) had an expansion in <italic>JPH3</italic>, confirming the diagnosis of Huntington disease like 2 (HDL2). Individuals with HDL2 share many clinical features with individuals with HD and are clinically indistinguishable in many cases, although the average age of onset and diagnosis in HDL2 is 5 years later than HD and individual clinical features may be more prominent. HDL2 mutations contribute significantly to the HD phenotype in South Africans with African ancestry. <italic>JPH3</italic> haplotype studies in 31 families, mainly from South Africa and North America, provide evidence for a founder mutation and support a common African origin for all HDL2 patients. Molecular testing in individuals with an HD phenotype and African ancestry should include testing routinely for <italic>JPH3</italic> mutations.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">101235742</journal-id><journal-id journal-id-type="pubmed-jr-id">32212</journal-id><journal-id journal-id-type="nlm-ta">Am J Med Genet B Neuropsychiatr Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Med. Genet. B Neuropsychiatr. Genet.</journal-id><journal-title-group><journal-title>American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics</journal-title></journal-title-group><issn pub-type="ppub">1552-4841</issn><issn pub-type="epub">1552-485X</issn></journal-meta><article-meta><article-id pub-id-type="pmid">26079385</article-id><article-id pub-id-type="pmc">4565761</article-id><article-id pub-id-type="doi">10.1002/ajmg.b.32332</article-id><article-id pub-id-type="manuscript">NIHMS708016</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>JUNCTOPHILIN 3 (<italic>JPH3</italic>) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Krause</surname><given-names>A</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Mitchell</surname><given-names>CL</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Essop</surname><given-names>F</given-names></name><xref ref-type="aff" rid="A1">1</xref><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Tager</surname><given-names>S</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref rid="FN1" ref-type="author-notes">4</xref></contrib><contrib contrib-type="author"><name><surname>Temlett</surname><given-names>J</given-names></name><xref ref-type="aff" rid="A3">3</xref><xref ref-type="aff" rid="A4">5</xref></contrib><contrib contrib-type="author"><name><surname>Stevanin</surname><given-names>G</given-names></name><xref ref-type="aff" rid="A5">6</xref><xref ref-type="aff" rid="A6">7</xref></contrib><contrib contrib-type="author"><name><surname>Ross</surname><given-names>CA</given-names></name><xref ref-type="aff" rid="A7">8</xref></contrib><contrib contrib-type="author"><name><surname>Rudnicki</surname><given-names>DD</given-names></name><xref ref-type="aff" rid="A8">9</xref></contrib><contrib contrib-type="author"><name><surname>Margolis</surname><given-names>RL</given-names></name><xref ref-type="aff" rid="A9">10</xref></contrib></contrib-group><aff id="A1"><label>1</label>Division of Human Genetics, National Health Laboratory Service, Johannesburg South Africa</aff><aff id="A2"><label>2</label>Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa</aff><aff id="A3"><label>3</label>Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa</aff><aff id="A4"><label>5</label>Department Clinical Neurology, University of Adelaide and the Royal Adelaide Hospital, Adelaide, Australia</aff><aff id="A5"><label>6</label>Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France</aff><aff id="A6"><label>7</label>Ecole Pratique des Hautes Etudes, F-75014, Paris, France</aff><aff id="A7"><label>8</label>Johns Hopkins University School of Medicine, Departments of Psychiatry, Neurology, Neuroscience, and Pharmacology and Molecular Sciences and Program in Cellular and Molecular Medicine, Baltimore, MD 21287</aff><aff id="A8"><label>9</label>Johns Hopkins University School of Medicine, Departments of Psychiatry and Program in Cellular and Molecular Medicine, Baltimore, MD 21287</aff><aff id="A9"><label>10</label>Johns Hopkins University School of Medicine, Departments of Psychiatry and Neurology and Program in Cellular and Molecular Medicine, Baltimore, MD 21287</aff><author-notes><fn id="FN1"><label>4</label><p>Current Position: Donald Gordon Medical Centre, Johannesburg, South Africa</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>15</day><month>8</month><year>2015</year></pub-date><pub-date pub-type="epub"><day>16</day><month>6</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>10</month><year>2015</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>10</month><year>2016</year></pub-date><volume>168</volume><issue>7</issue><fpage>573</fpage><lpage>585</lpage><pmc-comment>elocation-id from pubmed: 10.1002/ajmg.b.32332</pmc-comment>
<abstract><p id="P1">Huntington disease (HD) is a progressive autosomal dominant neurodegenerative disorder, characterized by abnormal movements, cognitive decline and psychiatric symptoms, caused by a CAG repeat expansion in the <italic>huntingtin</italic> (<italic>HTT</italic>) gene on chromosome 4p. A CAG/CTG repeat expansion in the <italic>junctophilin-3</italic> (<italic>JPH3</italic>) gene on chromosome 16q24.2 causes a Huntington disease-like phenotype (HDL2). All patients to date with HDL2 have some African ancestry. The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the <italic>JPH3</italic> mutation. In a sample of unrelated South African individuals referred for diagnostic HD testing, 62% (106/171) of white patients compared to only 36% (47/130) of black patients had an expansion in <italic>HTT</italic>. However, 15% (20/130) of black South African patients and no white patients (0/171) had an expansion in <italic>JPH3</italic>, confirming the diagnosis of Huntington disease like 2 (HDL2). Individuals with HDL2 share many clinical features with individuals with HD and are clinically indistinguishable in many cases, although the average age of onset and diagnosis in HDL2 is 5 years later than HD and individual clinical features may be more prominent. HDL2 mutations contribute significantly to the HD phenotype in South Africans with African ancestry. <italic>JPH3</italic> haplotype studies in 31 families, mainly from South Africa and North America, provide evidence for a founder mutation and support a common African origin for all HDL2 patients. Molecular testing in individuals with an HD phenotype and African ancestry should include testing routinely for <italic>JPH3</italic> mutations.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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