AustralieFrV1, Main, Exploration, bibRecord, 002C07

JUNCTOPHILIN 3 (JPH3) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE

Identifieur interne : 002C07 ( Main/Exploration ); précédent : 002C06; suivant : 002C08

JUNCTOPHILIN 3 (JPH3) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE

Auteurs : A. Krause [Afrique du Sud] ; Cl Mitchell ; F. Essop [Afrique du Sud] ; S. Tager [Afrique du Sud] ; J. Temlett [Afrique du Sud, Australie] ; G. Stevanin [France] ; Ca Ross [États-Unis] ; Dd Rudnicki [États-Unis] ; Rl Margolis [États-Unis]

Source :

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics [ 1552-4841 ] ; 2015.

RBID : PMC:4565761

Descripteurs français

English descriptors

KwdEn :
- Adult, African Continental Ancestry Group (genetics), Chorea (ethnology), Chorea (genetics), Chorea (pathology), Cognition Disorders (ethnology), Cognition Disorders (genetics), Cognition Disorders (pathology), Dementia (ethnology), Dementia (genetics), Dementia (pathology), European Continental Ancestry Group (genetics), Female, Genetic Association Studies, Haplotypes, Heredodegenerative Disorders, Nervous System (ethnology), Heredodegenerative Disorders, Nervous System (genetics), Heredodegenerative Disorders, Nervous System (pathology), Humans, Huntington Disease (ethnology), Huntington Disease (genetics), Huntington Disease (pathology), Male, Membrane Proteins (genetics), Microsatellite Repeats, Middle Aged, Mutation, Polymorphism, Single Nucleotide, South Africa, Trinucleotide Repeats.
MESH :
- chemical , genetics : Membrane Proteins.
- geographic : South Africa.
- ethnology : Chorea, Cognition Disorders, Dementia, Heredodegenerative Disorders, Nervous System, Huntington Disease.
- genetics : African Continental Ancestry Group, Chorea, Cognition Disorders, Dementia, European Continental Ancestry Group, Heredodegenerative Disorders, Nervous System, Huntington Disease.
- pathology : Chorea, Cognition Disorders, Dementia, Heredodegenerative Disorders, Nervous System, Huntington Disease.
- Adult, Female, Genetic Association Studies, Haplotypes, Humans, Male, Microsatellite Repeats, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Trinucleotide Repeats.

Abstract

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 huntingtin (HTT) gene on chromosome 4p. A CAG/CTG repeat expansion in the junctophilin-3 (JPH3) 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 JPH3 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 HTT. However, 15% (20/130) of black South African patients and no white patients (0/171) had an expansion in JPH3, 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. JPH3 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 JPH3 mutations.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565761

DOI: 10.1002/ajmg.b.32332
PubMed: 26079385
PubMed Central: 4565761

Affiliations:

Le document en format XML

<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>
<wicri:noCountry code="subfield">Johannesburg South Africa</wicri:noCountry>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A2">Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg</wicri:regionArea>
<orgName type="university">Université du Witwatersrand</orgName>
<placeName><settlement type="city">Johannesbourg</settlement>
<region type="region" nuts="2">Gauteng</region>
</placeName>
</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>
<wicri:noCountry code="subfield">Johannesburg South Africa</wicri:noCountry>
</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>
<wicri:noCountry code="subfield">Johannesburg South Africa</wicri:noCountry>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A2">Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg</wicri:regionArea>
<orgName type="university">Université du Witwatersrand</orgName>
<placeName><settlement type="city">Johannesbourg</settlement>
<region type="region" nuts="2">Gauteng</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tager, S" sort="Tager, S" uniqKey="Tager S" first="S" last="Tager">S. Tager</name>
<affiliation wicri:level="4"><nlm:aff id="A3">Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Department of Neurology, University of the Witwatersrand, Johannesburg</wicri:regionArea>
<orgName type="university">Université du Witwatersrand</orgName>
<placeName><settlement type="city">Johannesbourg</settlement>
<region type="region" nuts="2">Gauteng</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Temlett, J" sort="Temlett, J" uniqKey="Temlett J" first="J" last="Temlett">J. Temlett</name>
<affiliation wicri:level="4"><nlm:aff id="A3">Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Department of Neurology, University of the Witwatersrand, Johannesburg</wicri:regionArea>
<orgName type="university">Université du Witwatersrand</orgName>
<placeName><settlement type="city">Johannesbourg</settlement>
<region type="region" nuts="2">Gauteng</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A4">Department Clinical Neurology, University of Adelaide and the Royal Adelaide Hospital, Adelaide, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department Clinical Neurology, University of Adelaide and the Royal Adelaide Hospital, Adelaide</wicri:regionArea>
<wicri:noRegion>Adelaide</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stevanin, G" sort="Stevanin, G" uniqKey="Stevanin G" first="G" last="Stevanin">G. Stevanin</name>
<affiliation wicri:level="3"><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>
<country xml:lang="fr">France</country>
<wicri:regionArea>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</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A6">Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ross, Ca" sort="Ross, Ca" uniqKey="Ross C" first="Ca" last="Ross">Ca Ross</name>
<affiliation wicri:level="2"><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>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Johns Hopkins University School of Medicine, Departments of Psychiatry, Neurology, Neuroscience, and Pharmacology and Molecular Sciences and Program in Cellular and Molecular Medicine, Baltimore</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Rudnicki, Dd" sort="Rudnicki, Dd" uniqKey="Rudnicki D" first="Dd" last="Rudnicki">Dd Rudnicki</name>
<affiliation wicri:level="2"><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>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Johns Hopkins University School of Medicine, Departments of Psychiatry and Program in Cellular and Molecular Medicine, Baltimore</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Margolis, Rl" sort="Margolis, Rl" uniqKey="Margolis R" first="Rl" last="Margolis">Rl Margolis</name>
<affiliation wicri:level="2"><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>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Johns Hopkins University School of Medicine, Departments of Psychiatry and Neurology and Program in Cellular and Molecular Medicine, Baltimore</wicri:cityArea>
</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>
<idno type="wicri:Area/Pmc/Curation">001C89</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001C89</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000E96</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000E96</idno>
<idno type="wicri:source">PubMed</idno>
<idno type="wicri:Area/PubMed/Corpus">002855</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002855</idno>
<idno type="wicri:Area/PubMed/Curation">002786</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002786</idno>
<idno type="wicri:Area/PubMed/Checkpoint">002786</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002786</idno>
<idno type="wicri:Area/Ncbi/Merge">002713</idno>
<idno type="wicri:Area/Ncbi/Curation">002713</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">002713</idno>
<idno type="wicri:Area/Main/Merge">002C07</idno>
<idno type="wicri:Area/Main/Curation">002C07</idno>
<idno type="wicri:Area/Main/Exploration">002C07</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>
<wicri:noCountry code="subfield">Johannesburg South Africa</wicri:noCountry>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A2">Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg</wicri:regionArea>
<orgName type="university">Université du Witwatersrand</orgName>
<placeName><settlement type="city">Johannesbourg</settlement>
<region type="region" nuts="2">Gauteng</region>
</placeName>
</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>
<wicri:noCountry code="subfield">Johannesburg South Africa</wicri:noCountry>
</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>
<wicri:noCountry code="subfield">Johannesburg South Africa</wicri:noCountry>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A2">Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Division of Human Genetics, School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg</wicri:regionArea>
<orgName type="university">Université du Witwatersrand</orgName>
<placeName><settlement type="city">Johannesbourg</settlement>
<region type="region" nuts="2">Gauteng</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tager, S" sort="Tager, S" uniqKey="Tager S" first="S" last="Tager">S. Tager</name>
<affiliation wicri:level="4"><nlm:aff id="A3">Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Department of Neurology, University of the Witwatersrand, Johannesburg</wicri:regionArea>
<orgName type="university">Université du Witwatersrand</orgName>
<placeName><settlement type="city">Johannesbourg</settlement>
<region type="region" nuts="2">Gauteng</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Temlett, J" sort="Temlett, J" uniqKey="Temlett J" first="J" last="Temlett">J. Temlett</name>
<affiliation wicri:level="4"><nlm:aff id="A3">Department of Neurology, University of the Witwatersrand, Johannesburg, South Africa</nlm:aff>
<country xml:lang="fr">Afrique du Sud</country>
<wicri:regionArea>Department of Neurology, University of the Witwatersrand, Johannesburg</wicri:regionArea>
<orgName type="university">Université du Witwatersrand</orgName>
<placeName><settlement type="city">Johannesbourg</settlement>
<region type="region" nuts="2">Gauteng</region>
</placeName>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A4">Department Clinical Neurology, University of Adelaide and the Royal Adelaide Hospital, Adelaide, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department Clinical Neurology, University of Adelaide and the Royal Adelaide Hospital, Adelaide</wicri:regionArea>
<wicri:noRegion>Adelaide</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stevanin, G" sort="Stevanin, G" uniqKey="Stevanin G" first="G" last="Stevanin">G. Stevanin</name>
<affiliation wicri:level="3"><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>
<country xml:lang="fr">France</country>
<wicri:regionArea>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</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A6">Ecole Pratique des Hautes Etudes, F-75014, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Ecole Pratique des Hautes Etudes, F-75014, Paris</wicri:regionArea>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ross, Ca" sort="Ross, Ca" uniqKey="Ross C" first="Ca" last="Ross">Ca Ross</name>
<affiliation wicri:level="2"><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>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Johns Hopkins University School of Medicine, Departments of Psychiatry, Neurology, Neuroscience, and Pharmacology and Molecular Sciences and Program in Cellular and Molecular Medicine, Baltimore</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Rudnicki, Dd" sort="Rudnicki, Dd" uniqKey="Rudnicki D" first="Dd" last="Rudnicki">Dd Rudnicki</name>
<affiliation wicri:level="2"><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>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Johns Hopkins University School of Medicine, Departments of Psychiatry and Program in Cellular and Molecular Medicine, Baltimore</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Margolis, Rl" sort="Margolis, Rl" uniqKey="Margolis R" first="Rl" last="Margolis">Rl Margolis</name>
<affiliation wicri:level="2"><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>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>Johns Hopkins University School of Medicine, Departments of Psychiatry and Neurology and Program in Cellular and Molecular Medicine, Baltimore</wicri:cityArea>
</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><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
<term>African Continental Ancestry Group (genetics)</term>
<term>Chorea (ethnology)</term>
<term>Chorea (genetics)</term>
<term>Chorea (pathology)</term>
<term>Cognition Disorders (ethnology)</term>
<term>Cognition Disorders (genetics)</term>
<term>Cognition Disorders (pathology)</term>
<term>Dementia (ethnology)</term>
<term>Dementia (genetics)</term>
<term>Dementia (pathology)</term>
<term>European Continental Ancestry Group (genetics)</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>Haplotypes</term>
<term>Heredodegenerative Disorders, Nervous System (ethnology)</term>
<term>Heredodegenerative Disorders, Nervous System (genetics)</term>
<term>Heredodegenerative Disorders, Nervous System (pathology)</term>
<term>Humans</term>
<term>Huntington Disease (ethnology)</term>
<term>Huntington Disease (genetics)</term>
<term>Huntington Disease (pathology)</term>
<term>Male</term>
<term>Membrane Proteins (genetics)</term>
<term>Microsatellite Repeats</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Polymorphism, Single Nucleotide</term>
<term>South Africa</term>
<term>Trinucleotide Repeats</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Chorée (anatomopathologie)</term>
<term>Chorée (ethnologie)</term>
<term>Chorée (génétique)</term>
<term>Démence (anatomopathologie)</term>
<term>Démence (ethnologie)</term>
<term>Démence (génétique)</term>
<term>Femelle</term>
<term>Haplotypes</term>
<term>Humains</term>
<term>Maladie de Huntington (anatomopathologie)</term>
<term>Maladie de Huntington (ethnologie)</term>
<term>Maladie de Huntington (génétique)</term>
<term>Maladies neurodégénératives héréditaires (anatomopathologie)</term>
<term>Maladies neurodégénératives héréditaires (ethnologie)</term>
<term>Maladies neurodégénératives héréditaires (génétique)</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Polymorphisme de nucléotide simple</term>
<term>Population d'origine africaine (génétique)</term>
<term>Population d'origine européenne (génétique)</term>
<term>Protéines membranaires (génétique)</term>
<term>République d'Afrique du Sud</term>
<term>Répétitions de trinucléotides</term>
<term>Répétitions microsatellites</term>
<term>Troubles de la cognition (anatomopathologie)</term>
<term>Troubles de la cognition (ethnologie)</term>
<term>Troubles de la cognition (génétique)</term>
<term>Études d'associations génétiques</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Membrane Proteins</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>South Africa</term>
</keywords>
<keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Chorée</term>
<term>Démence</term>
<term>Maladie de Huntington</term>
<term>Maladies neurodégénératives héréditaires</term>
<term>Troubles de la cognition</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnologie" xml:lang="fr"><term>Chorée</term>
<term>Démence</term>
<term>Maladie de Huntington</term>
<term>Maladies neurodégénératives héréditaires</term>
<term>Troubles de la cognition</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Chorea</term>
<term>Cognition Disorders</term>
<term>Dementia</term>
<term>Heredodegenerative Disorders, Nervous System</term>
<term>Huntington Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>African Continental Ancestry Group</term>
<term>Chorea</term>
<term>Cognition Disorders</term>
<term>Dementia</term>
<term>European Continental Ancestry Group</term>
<term>Heredodegenerative Disorders, Nervous System</term>
<term>Huntington Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chorée</term>
<term>Démence</term>
<term>Maladie de Huntington</term>
<term>Maladies neurodégénératives héréditaires</term>
<term>Population d'origine africaine</term>
<term>Population d'origine européenne</term>
<term>Protéines membranaires</term>
<term>Troubles de la cognition</term>
</keywords>
<keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Chorea</term>
<term>Cognition Disorders</term>
<term>Dementia</term>
<term>Heredodegenerative Disorders, Nervous System</term>
<term>Huntington Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Female</term>
<term>Genetic Association Studies</term>
<term>Haplotypes</term>
<term>Humans</term>
<term>Male</term>
<term>Microsatellite Repeats</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Trinucleotide Repeats</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Femelle</term>
<term>Haplotypes</term>
<term>Humains</term>
<term>Mutation</term>
<term>Mâle</term>
<term>Polymorphisme de nucléotide simple</term>
<term>République d'Afrique du Sud</term>
<term>Répétitions de trinucléotides</term>
<term>Répétitions microsatellites</term>
<term>Études d'associations génétiques</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Afrique du Sud</term>
</keywords>
</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>
<affiliations><list><country><li>Afrique du Sud</li>
<li>Australie</li>
<li>France</li>
<li>États-Unis</li>
</country>
<region><li>Gauteng</li>
<li>Maryland</li>
<li>Île-de-France</li>
</region>
<settlement><li>Johannesbourg</li>
<li>Paris</li>
</settlement>
<orgName><li>Université du Witwatersrand</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Mitchell, Cl" sort="Mitchell, Cl" uniqKey="Mitchell C" first="Cl" last="Mitchell">Cl Mitchell</name>
</noCountry>
<country name="Afrique du Sud"><region name="Gauteng"><name sortKey="Krause, A" sort="Krause, A" uniqKey="Krause A" first="A" last="Krause">A. Krause</name>
</region>
<name sortKey="Essop, F" sort="Essop, F" uniqKey="Essop F" first="F" last="Essop">F. Essop</name>
<name sortKey="Tager, S" sort="Tager, S" uniqKey="Tager S" first="S" last="Tager">S. Tager</name>
<name sortKey="Temlett, J" sort="Temlett, J" uniqKey="Temlett J" first="J" last="Temlett">J. Temlett</name>
</country>
<country name="Australie"><noRegion><name sortKey="Temlett, J" sort="Temlett, J" uniqKey="Temlett J" first="J" last="Temlett">J. Temlett</name>
</noRegion>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Stevanin, G" sort="Stevanin, G" uniqKey="Stevanin G" first="G" last="Stevanin">G. Stevanin</name>
</region>
<name sortKey="Stevanin, G" sort="Stevanin, G" uniqKey="Stevanin G" first="G" last="Stevanin">G. Stevanin</name>
</country>
<country name="États-Unis"><region name="Maryland"><name sortKey="Ross, Ca" sort="Ross, Ca" uniqKey="Ross C" first="Ca" last="Ross">Ca Ross</name>
</region>
<name sortKey="Margolis, Rl" sort="Margolis, Rl" uniqKey="Margolis R" first="Rl" last="Margolis">Rl Margolis</name>
<name sortKey="Rudnicki, Dd" sort="Rudnicki, Dd" uniqKey="Rudnicki D" first="Dd" last="Rudnicki">Dd Rudnicki</name>
</country>
</tree>
</affiliations>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002C07 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002C07 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Asie
   |area=    AustralieFrV1
   |flux=    Main
   |étape=   Exploration
   |type=    RBID
   |clé=     PMC:4565761
   |texte=   JUNCTOPHILIN 3 (JPH3) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE
}}

Pour générer des pages wiki

HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i   -Sk "pubmed:26079385" \
       | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd   \
       | NlmPubMed2Wicri -a AustralieFrV1

This area was generated with Dilib version V0.6.33.
Data generation: Tue Dec 5 10:43:12 2017. Site generation: Tue Mar 5 14:07:20 2024

Serveur d'exploration sur les relations entre la France et l'Australie

JUNCTOPHILIN 3 (JPH3) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE

JUNCTOPHILIN 3 (JPH3) EXPANSION MUTATIONS CAUSING HUNTINGTON DISEASE LIKE 2 (HDL2) ARE COMMON IN SOUTH AFRICAN PATIENTS WITH AFRICAN ANCESTRY AND A HUNTINGTON DISEASE PHENOTYPE

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Serveur d'exploration sur les relations entre la France et l'Australie
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.