Distribution, type, and origin of Parkin mutations: Review and case studies
Identifieur interne : 001189 ( Main/Corpus ); précédent : 001188; suivant : 001190Distribution, type, and origin of Parkin mutations: Review and case studies
Auteurs : Katja Hedrich ; Cordula Eskelson ; Beth Wilmot ; Karen Marder ; Juliette Harris ; Jennifer Garrels ; Helen Meija-Santana ; Peter Vieregge ; Helfried Jacobs ; Susan B. Bressman ; Anthony E. Lang ; Martin Kann ; Giovanni Abbruzzese ; Paolo Martinelli ; Eberhard Schwinger ; Laurie J. Ozelius ; Peter P. Pramstaller ; Christine Klein ; Patricia KramerSource :
- Movement Disorders [ 0885-3185 ] ; 2004-10.
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- KwdEn :
Abstract
Early‐onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that demonstrated two prominent types of mutations among 379 unrelated mutation carriers: exon rearrangements involving exon 3, 4, or both, and alterations in exons 2 and 7, suggesting mutational hot spots or founders. To elucidate the origin of 14 recurrent Parkin mutations in our samples, we carried out a detailed haplotype analysis at the PARK2 locus. Thirty‐eight mutation‐positive individuals, available family members, and 62 mutation‐negative individuals were genotyped. We determined allele frequencies and linkage disequilibrium (LD) to evaluate the significance of shared haplotypes. We observed no LD between markers at PARK2. Our data support a common founder for the most frequent Parkin point mutation (924C>T; exon 7) and indicate a mutational hot spot as cause of a common small deletion (255/256delA; exon 2). Furthermore, the most frequent Parkin exon deletion (Ex4del) arose independently in 2 of our subjects. However, it also occurred as the result of a founder mutation in 2 cases that shared identical deletion break points. This study provides evidence for both mutational hot spots and founder mutations as a source of recurrent mutations in Parkin, regardless of the mutation type. © 2004 Movement Disorder Society
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DOI: 10.1002/mds.20234
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Bressman</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation><mods:affiliation>Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Toronto Western Hospital, Toronto, Ontario, Canada</mods:affiliation></affiliation></author><author><name sortKey="Kann, Martin" sort="Kann, Martin" uniqKey="Kann M" first="Martin" last="Kann">Martin Kann</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name><affiliation><mods:affiliation>Department of Neurological Sciences and Vision, University of Genova, Genova, Italy</mods:affiliation></affiliation></author><author><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</name><affiliation><mods:affiliation>Department of Neurological Sciences, University of Bologna, Bologna, Italy</mods:affiliation></affiliation></author><author><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name><affiliation><mods:affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><affiliation><mods:affiliation>Department of Neurology, Regional General Hospital, and EURAC‐Research, Genetic Medicine, Bolzano, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon, USA</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name><affiliation><mods:affiliation>Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland Oregon, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon, USA</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:342E33DAA88F3E9332FE449D2E4C73621D4D17F9</idno><date when="2004" year="2004">2004</date><idno type="doi">10.1002/mds.20234</idno><idno type="url">https://api.istex.fr/document/342E33DAA88F3E9332FE449D2E4C73621D4D17F9/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">001189</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Distribution, type, and origin of Parkin mutations: Review and case studies</title><author><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Eskelson, Cordula" sort="Eskelson, Cordula" uniqKey="Eskelson C" first="Cordula" last="Eskelson">Cordula Eskelson</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Wilmot, Beth" sort="Wilmot, Beth" uniqKey="Wilmot B" first="Beth" last="Wilmot">Beth Wilmot</name><affiliation><mods:affiliation>Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland Oregon, USA</mods:affiliation></affiliation></author><author><name sortKey="Marder, Karen" sort="Marder, Karen" uniqKey="Marder K" first="Karen" last="Marder">Karen Marder</name><affiliation><mods:affiliation>Department of Neurology, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Taub Institute for Research on Alzheimer's disease and the Aging Brain, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Harris, Juliette" sort="Harris, Juliette" uniqKey="Harris J" first="Juliette" last="Harris">Juliette Harris</name><affiliation><mods:affiliation>Department of Neurology, Columbia University, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Garrels, Jennifer" sort="Garrels, Jennifer" uniqKey="Garrels J" first="Jennifer" last="Garrels">Jennifer Garrels</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Meija Antana, Helen" sort="Meija Antana, Helen" uniqKey="Meija Antana H" first="Helen" last="Meija-Santana">Helen Meija-Santana</name><affiliation><mods:affiliation>Department of Neurology, Columbia University, New York, New York, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Gertrude H. Sergievsky Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Hospital Lippe‐Lemgo, Germany</mods:affiliation></affiliation></author><author><name sortKey="Jacobs, Helfried" sort="Jacobs, Helfried" uniqKey="Jacobs H" first="Helfried" last="Jacobs">Helfried Jacobs</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Hospital Rothenburg/Wümme, Germany</mods:affiliation></affiliation></author><author><name sortKey="Bressman, Susan B" sort="Bressman, Susan B" uniqKey="Bressman S" first="Susan B." last="Bressman">Susan B. Bressman</name><affiliation><mods:affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation><mods:affiliation>Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</mods:affiliation></affiliation><affiliation><mods:affiliation>Toronto Western Hospital, Toronto, Ontario, Canada</mods:affiliation></affiliation></author><author><name sortKey="Kann, Martin" sort="Kann, Martin" uniqKey="Kann M" first="Martin" last="Kann">Martin Kann</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name><affiliation><mods:affiliation>Department of Neurological Sciences and Vision, University of Genova, Genova, Italy</mods:affiliation></affiliation></author><author><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</name><affiliation><mods:affiliation>Department of Neurological Sciences, University of Bologna, Bologna, Italy</mods:affiliation></affiliation></author><author><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name><affiliation><mods:affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</mods:affiliation></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><affiliation><mods:affiliation>Department of Neurology, Regional General Hospital, and EURAC‐Research, Genetic Medicine, Bolzano, Italy</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon, USA</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kramer, Patricia" sort="Kramer, Patricia" uniqKey="Kramer P" first="Patricia" last="Kramer">Patricia Kramer</name><affiliation><mods:affiliation>Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland Oregon, USA</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon, USA</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2004-10">2004-10</date><biblScope unit="volume">19</biblScope><biblScope unit="issue">10</biblScope><biblScope unit="page" from="1146">1146</biblScope><biblScope unit="page" to="1157">1157</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">342E33DAA88F3E9332FE449D2E4C73621D4D17F9</idno><idno type="DOI">10.1002/mds.20234</idno><idno type="ArticleID">MDS20234</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Parkin</term><term>break point analysis</term><term>distribution</term><term>linkage disequilibrium</term><term>origin</term><term>recurrent mutations</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Early‐onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that demonstrated two prominent types of mutations among 379 unrelated mutation carriers: exon rearrangements involving exon 3, 4, or both, and alterations in exons 2 and 7, suggesting mutational hot spots or founders. To elucidate the origin of 14 recurrent Parkin mutations in our samples, we carried out a detailed haplotype analysis at the PARK2 locus. Thirty‐eight mutation‐positive individuals, available family members, and 62 mutation‐negative individuals were genotyped. We determined allele frequencies and linkage disequilibrium (LD) to evaluate the significance of shared haplotypes. We observed no LD between markers at PARK2. Our data support a common founder for the most frequent Parkin point mutation (924C>T; exon 7) and indicate a mutational hot spot as cause of a common small deletion (255/256delA; exon 2). Furthermore, the most frequent Parkin exon deletion (Ex4del) arose independently in 2 of our subjects. However, it also occurred as the result of a founder mutation in 2 cases that shared identical deletion break points. This study provides evidence for both mutational hot spots and founder mutations as a source of recurrent mutations in Parkin, regardless of the mutation type. © 2004 Movement Disorder Society</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Katja Hedrich PhD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Cordula Eskelson MD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Beth Wilmot MS</name><affiliations><json:string>Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland Oregon, USA</json:string></affiliations></json:item><json:item><name>Karen Marder MD, MPH</name><affiliations><json:string>Department of Neurology, Columbia University, New York, New York, USA</json:string><json:string>Gertrude H. Sergievsky Center, New York, New York, USA</json:string><json:string>Taub Institute for Research on Alzheimer's disease and the Aging Brain, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Juliette Harris PhD</name><affiliations><json:string>Department of Neurology, Columbia University, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Jennifer Garrels BS</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Helen Meija‐Santana MS</name><affiliations><json:string>Department of Neurology, Columbia University, New York, New York, USA</json:string><json:string>Gertrude H. Sergievsky Center, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Peter Vieregge MD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, Hospital Lippe‐Lemgo, Germany</json:string></affiliations></json:item><json:item><name>Helfried Jacobs MD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Neurology, Hospital Rothenburg/Wümme, Germany</json:string></affiliations></json:item><json:item><name>Susan B. Bressman MD</name><affiliations><json:string>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</json:string></affiliations></json:item><json:item><name>Anthony E. Lang MD</name><affiliations><json:string>Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</json:string><json:string>Toronto Western Hospital, Toronto, Ontario, Canada</json:string></affiliations></json:item><json:item><name>Martin Kann MD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Giovanni Abbruzzese MD</name><affiliations><json:string>Department of Neurological Sciences and Vision, University of Genova, Genova, Italy</json:string></affiliations></json:item><json:item><name>Paolo Martinelli MD</name><affiliations><json:string>Department of Neurological Sciences, University of Bologna, Bologna, Italy</json:string></affiliations></json:item><json:item><name>Eberhard Schwinger MD</name><affiliations><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Laurie J. Ozelius PhD</name><affiliations><json:string>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</json:string></affiliations></json:item><json:item><name>Peter P. Pramstaller MD</name><affiliations><json:string>Department of Neurology, Regional General Hospital, and EURAC‐Research, Genetic Medicine, Bolzano, Italy</json:string><json:string>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon, USA</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>Department of Neurology, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Patricia Kramer PhD</name><affiliations><json:string>Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland Oregon, USA</json:string><json:string>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon, USA</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Parkin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>recurrent mutations</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>origin</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>distribution</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>break point analysis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>linkage disequilibrium</value></json:item></subject><articleId><json:string>MDS20234</json:string></articleId><language><json:string>eng</json:string></language><abstract>Early‐onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that demonstrated two prominent types of mutations among 379 unrelated mutation carriers: exon rearrangements involving exon 3, 4, or both, and alterations in exons 2 and 7, suggesting mutational hot spots or founders. To elucidate the origin of 14 recurrent Parkin mutations in our samples, we carried out a detailed haplotype analysis at the PARK2 locus. Thirty‐eight mutation‐positive individuals, available family members, and 62 mutation‐negative individuals were genotyped. We determined allele frequencies and linkage disequilibrium (LD) to evaluate the significance of shared haplotypes. We observed no LD between markers at PARK2. Our data support a common founder for the most frequent Parkin point mutation (924C>T; exon 7) and indicate a mutational hot spot as cause of a common small deletion (255/256delA; exon 2). Furthermore, the most frequent Parkin exon deletion (Ex4del) arose independently in 2 of our subjects. However, it also occurred as the result of a founder mutation in 2 cases that shared identical deletion break points. This study provides evidence for both mutational hot spots and founder mutations as a source of recurrent mutations in Parkin, regardless of the mutation type. © 2004 Movement Disorder Society</abstract><qualityIndicators><score>7.616</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 810 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>6</keywordCount><abstractCharCount>1453</abstractCharCount><pdfWordCount>5818</pdfWordCount><pdfCharCount>38785</pdfCharCount><pdfPageCount>12</pdfPageCount><abstractWordCount>218</abstractWordCount></qualityIndicators><title>Distribution, type, and origin of Parkin mutations: Review and case studies</title><genre><json:string>article</json:string></genre><host><volume>19</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>12</total><last>1157</last><first>1146</first></pages><issn><json:string>0885-3185</json:string></issn><issue>10</issue><subject><json:item><value>Research Article</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2004</publicationDate><copyrightDate>2004</copyrightDate><doi><json:string>10.1002/mds.20234</json:string></doi><id>342E33DAA88F3E9332FE449D2E4C73621D4D17F9</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/342E33DAA88F3E9332FE449D2E4C73621D4D17F9/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/342E33DAA88F3E9332FE449D2E4C73621D4D17F9/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/342E33DAA88F3E9332FE449D2E4C73621D4D17F9/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Distribution, type, and origin of Parkin mutations: Review and case studies</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2004</date></publicationStmt><notesStmt><note>Deutsche Forschungsgemeinschaft - No. Kl‐1134/2‐1; No. 2‐2;</note><note>NIH - No. K08; No. NS36630;</note><note>Parkinson's Disease Foundation</note><note>Deutsche Parkinsonvereinigung</note><note>National Parkinson Foundation (Miami) Center of Excellence Award</note><note>Neuroepidemiology Project South Tyrol</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Distribution, type, and origin of Parkin mutations: Review and case studies</title><author><persName><forename type="first">Katja</forename><surname>Hedrich</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Cordula</forename><surname>Eskelson</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Beth</forename><surname>Wilmot</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland Oregon, USA</affiliation></author><author><persName><forename type="first">Karen</forename><surname>Marder</surname></persName><roleName type="degree">MD, MPH</roleName><affiliation>Department of Neurology, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, New York, New York, USA</affiliation><affiliation>Taub Institute for Research on Alzheimer's disease and the Aging Brain, New York, New York, USA</affiliation></author><author><persName><forename type="first">Juliette</forename><surname>Harris</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neurology, Columbia University, New York, New York, USA</affiliation></author><author><persName><forename type="first">Jennifer</forename><surname>Garrels</surname></persName><roleName type="degree">BS</roleName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Helen</forename><surname>Meija‐Santana</surname></persName><roleName type="degree">MS</roleName><affiliation>Department of Neurology, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, New York, New York, USA</affiliation></author><author><persName><forename type="first">Peter</forename><surname>Vieregge</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, Hospital Lippe‐Lemgo, Germany</affiliation></author><author><persName><forename type="first">Helfried</forename><surname>Jacobs</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, Hospital Rothenburg/Wümme, Germany</affiliation></author><author><persName><forename type="first">Susan B.</forename><surname>Bressman</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation></author><author><persName><forename type="first">Anthony E.</forename><surname>Lang</surname></persName><roleName type="degree">MD</roleName><affiliation>Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</affiliation><affiliation>Toronto Western Hospital, Toronto, Ontario, Canada</affiliation></author><author><persName><forename type="first">Martin</forename><surname>Kann</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Giovanni</forename><surname>Abbruzzese</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurological Sciences and Vision, University of Genova, Genova, Italy</affiliation></author><author><persName><forename type="first">Paolo</forename><surname>Martinelli</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurological Sciences, University of Bologna, Bologna, Italy</affiliation></author><author><persName><forename type="first">Eberhard</forename><surname>Schwinger</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Laurie J.</forename><surname>Ozelius</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation></author><author><persName><forename type="first">Peter P.</forename><surname>Pramstaller</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Regional General Hospital, and EURAC‐Research, Genetic Medicine, Bolzano, Italy</affiliation><affiliation>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon, USA</affiliation></author><author><persName><forename type="first">Christine</forename><surname>Klein</surname></persName><roleName type="degree">MD</roleName><note type="correspondence"><p>Correspondence: Department of Neurology, University of Lübeck; Ratzeburger Allee 160, 23538 Lübeck, Germany</p></note><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation></author><author><persName><forename type="first">Patricia</forename><surname>Kramer</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland Oregon, USA</affiliation><affiliation>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that demonstrated two prominent types of mutations among 379 unrelated mutation carriers: exon rearrangements involving exon 3, 4, or both, and alterations in exons 2 and 7, suggesting mutational hot spots or founders. To elucidate the origin of 14 recurrent Parkin mutations in our samples, we carried out a detailed haplotype analysis at the PARK2 locus. Thirty‐eight mutation‐positive individuals, available family members, and 62 mutation‐negative individuals were genotyped. We determined allele frequencies and linkage disequilibrium (LD) to evaluate the significance of shared haplotypes. We observed no LD between markers at PARK2. Our data support a common founder for the most frequent Parkin point mutation (924C>T; exon 7) and indicate a mutational hot spot as cause of a common small deletion (255/256delA; exon 2). Furthermore, the most frequent Parkin exon deletion (Ex4del) arose independently in 2 of our subjects. However, it also occurred as the result of a founder mutation in 2 cases that shared identical deletion break points. This study provides evidence for both mutational hot spots and founder mutations as a source of recurrent mutations in Parkin, regardless of the mutation type. © 2004 Movement Disorder Society</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>Parkin</term></item><item><term>recurrent mutations</term></item><item><term>origin</term></item><item><term>distribution</term></item><item><term>break point analysis</term></item><item><term>linkage disequilibrium</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2003-12-19">Received</change><change when="2004-02-26">Registration</change><change when="2004-10">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/342E33DAA88F3E9332FE449D2E4C73621D4D17F9/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="subtitle">Official Journal of the Movement Disorder Society</title><title type="short">Mov. 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To study distribution and type of <i>Parkin</i> mutations, we carried out a comprehensive literature review that demonstrated two prominent types of mutations among 379 unrelated mutation carriers: exon rearrangements involving exon 3, 4, or both, and alterations in exons 2 and 7, suggesting mutational hot spots or founders. To elucidate the origin of 14 recurrent <i>Parkin</i> mutations in our samples, we carried out a detailed haplotype analysis at the <i>PARK2</i> locus. Thirty‐eight mutation‐positive individuals, available family members, and 62 mutation‐negative individuals were genotyped. We determined allele frequencies and linkage disequilibrium (LD) to evaluate the significance of shared haplotypes. We observed no LD between markers at <i>PARK2</i>. Our data support a common founder for the most frequent <i>Parkin</i> point mutation (924C>T; exon 7) and indicate a mutational hot spot as cause of a common small deletion (255/256delA; exon 2). Furthermore, the most frequent <i>Parkin</i> exon deletion (Ex4del) arose independently in 2 of our subjects. However, it also occurred as the result of a founder mutation in 2 cases that shared identical deletion break points. This study provides evidence for both mutational hot spots and founder mutations as a source of recurrent mutations in <i>Parkin</i>, regardless of the mutation type. © 2004 Movement Disorder Society</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Distribution, type, and origin of Parkin mutations: Review and case studies</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Distribution and Origin of Parkin Mutations</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Distribution, type, and origin of</title></titleInfo><name type="personal"><namePart type="given">Katja</namePart><namePart type="family">Hedrich</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Cordula</namePart><namePart type="family">Eskelson</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Beth</namePart><namePart type="family">Wilmot</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland Oregon, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Karen</namePart><namePart type="family">Marder</namePart><namePart type="termsOfAddress">MD, MPH</namePart><affiliation>Department of Neurology, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, New York, New York, USA</affiliation><affiliation>Taub Institute for Research on Alzheimer's disease and the Aging Brain, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Juliette</namePart><namePart type="family">Harris</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neurology, Columbia University, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jennifer</namePart><namePart type="family">Garrels</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Helen</namePart><namePart type="family">Meija‐Santana</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Department of Neurology, Columbia University, New York, New York, USA</affiliation><affiliation>Gertrude H. Sergievsky Center, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter</namePart><namePart type="family">Vieregge</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, Hospital Lippe‐Lemgo, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Helfried</namePart><namePart type="family">Jacobs</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Neurology, Hospital Rothenburg/Wümme, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Susan B.</namePart><namePart type="family">Bressman</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Beth Israel Medical Center, New York, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anthony E.</namePart><namePart type="family">Lang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Division of Neurology, Department of Medicine, University of Toronto, Toronto, Ontario, Canada</affiliation><affiliation>Toronto Western Hospital, Toronto, Ontario, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Martin</namePart><namePart type="family">Kann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Giovanni</namePart><namePart type="family">Abbruzzese</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurological Sciences and Vision, University of Genova, Genova, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Paolo</namePart><namePart type="family">Martinelli</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurological Sciences, University of Bologna, Bologna, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eberhard</namePart><namePart type="family">Schwinger</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laurie J.</namePart><namePart type="family">Ozelius</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Peter P.</namePart><namePart type="family">Pramstaller</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Regional General Hospital, and EURAC‐Research, Genetic Medicine, Bolzano, Italy</affiliation><affiliation>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><description>Correspondence: Department of Neurology, University of Lübeck; Ratzeburger Allee 160, 23538 Lübeck, Germany</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Patricia</namePart><namePart type="family">Kramer</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Molecular and Medical Genetics, Oregon Health and Sciences University, Portland Oregon, USA</affiliation><affiliation>Department of Neurology, Oregon Health and Sciences University, Portland, Oregon, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2004-10</dateIssued><dateCaptured encoding="w3cdtf">2003-12-19</dateCaptured><dateValid encoding="w3cdtf">2004-02-26</dateValid><copyrightDate encoding="w3cdtf">2004</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">5</extent><extent unit="tables">3</extent><extent unit="references">58</extent><extent unit="words">7299</extent></physicalDescription><abstract lang="en">Early‐onset Parkinson's disease (PD) has been associated with different mutations in the Parkin gene (PARK2). To study distribution and type of Parkin mutations, we carried out a comprehensive literature review that demonstrated two prominent types of mutations among 379 unrelated mutation carriers: exon rearrangements involving exon 3, 4, or both, and alterations in exons 2 and 7, suggesting mutational hot spots or founders. To elucidate the origin of 14 recurrent Parkin mutations in our samples, we carried out a detailed haplotype analysis at the PARK2 locus. Thirty‐eight mutation‐positive individuals, available family members, and 62 mutation‐negative individuals were genotyped. We determined allele frequencies and linkage disequilibrium (LD) to evaluate the significance of shared haplotypes. We observed no LD between markers at PARK2. Our data support a common founder for the most frequent Parkin point mutation (924C>T; exon 7) and indicate a mutational hot spot as cause of a common small deletion (255/256delA; exon 2). Furthermore, the most frequent Parkin exon deletion (Ex4del) arose independently in 2 of our subjects. However, it also occurred as the result of a founder mutation in 2 cases that shared identical deletion break points. This study provides evidence for both mutational hot spots and founder mutations as a source of recurrent mutations in Parkin, regardless of the mutation type. © 2004 Movement Disorder Society</abstract><note type="funding">Deutsche Forschungsgemeinschaft - No. Kl‐1134/2‐1; No. 2‐2; </note><note type="funding">NIH - No. K08; No. NS36630; </note><note type="funding">Parkinson's Disease Foundation</note><note type="funding">Deutsche Parkinsonvereinigung</note><note type="funding">National Parkinson Foundation (Miami) Center of Excellence Award</note><note type="funding">Neuroepidemiology Project South Tyrol</note><subject lang="en"><genre>Keywords</genre><topic>Parkin</topic><topic>recurrent mutations</topic><topic>origin</topic><topic>distribution</topic><topic>break point analysis</topic><topic>linkage disequilibrium</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title><subTitle>Official Journal of the Movement Disorder Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2004</date><detail type="volume"><caption>vol.</caption><number>19</number></detail><detail type="issue"><caption>no.</caption><number>10</number></detail><extent unit="pages"><start>1146</start><end>1157</end><total>12</total></extent></part></relatedItem><identifier type="istex">342E33DAA88F3E9332FE449D2E4C73621D4D17F9</identifier><identifier type="DOI">10.1002/mds.20234</identifier><identifier type="ArticleID">MDS20234</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2004 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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