VPS35 and DNAJC13 disease-causing variants in essential tremor.
Identifieur interne : 000351 ( PubMed/Checkpoint ); précédent : 000350; suivant : 000352VPS35 and DNAJC13 disease-causing variants in essential tremor.
Auteurs : Alex Rajput [Canada] ; Jay P. Ross [Canada] ; Cecily Q. Bernales [Canada] ; Sruti Rayaprolu [États-Unis] ; Alexandra I. Soto-Ortolaza [États-Unis] ; Owen A. Ross [États-Unis] ; Jay Van Gerpen [États-Unis] ; Ryan J. Uitti [États-Unis] ; Zbigniew K. Wszolek [États-Unis] ; Ali H. Rajput [Canada] ; Carles Vilari O-Güell [Canada]Source :
- European journal of human genetics : EJHG [ 1476-5438 ] ; 2015.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Molecular Chaperones, Vesicular Transport Proteins.
- genetics : Essential Tremor.
- Aged, Aged, 80 and over, Female, Haplotypes, Humans, Male, Microsatellite Repeats, Middle Aged, Polymorphism, Single Nucleotide.
Abstract
Exome-sequencing analyses have identified vacuolar protein sorting 35 homolog (VPS35) and DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13) harboring disease-causing variants for Parkinson disease (PD). Owing to the suggested clinical, pathological and genetic overlap between PD and essential tremor (ET) we assessed the presence of two VPS35 and DNAJC13 disease-causing variants in ET patients. TaqMan probes were used to genotype VPS35 c.1858G>A (p.(D620N)) (rs188286943) and DNAJC13 c.2564A>G (p.(N855S)) (rs387907571) in 571 ET patients of European descent, and microsatellite markers were used to define the disease haplotype in variant carriers. Genotyping of DNAJC13 identified two ET patients harboring the c.2564A>G (p.(N855S)) variant previously identified in PD patients. Both patients appear to share the disease haplotype previously reported. ET patients with the VPS35 c.1858G>A (p.(D620N)) variants were not observed. Although a genetic link between PD and ET has been suggested, DNAJC13 c.2564A>G (p.(N855S)) represents the first disease-causing variant identified in both, and suggests the regulation of clathrin dynamics and endosomal trafficking in the pathophysiology of a subset of ET patients.
DOI: 10.1038/ejhg.2014.164
PubMed: 25118025
Affiliations:
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pubmed:25118025Le document en format XML
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Ross</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Bernales, Cecily Q" sort="Bernales, Cecily Q" uniqKey="Bernales C" first="Cecily Q" last="Bernales">Cecily Q. Bernales</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author><author><name sortKey="Rayaprolu, Sruti" sort="Rayaprolu, Sruti" uniqKey="Rayaprolu S" first="Sruti" last="Rayaprolu">Sruti Rayaprolu</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Van Gerpen, Jay" sort="Van Gerpen, Jay" uniqKey="Van Gerpen J" first="Jay" last="Van Gerpen">Jay Van Gerpen</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J" last="Uitti">Ryan J. Uitti</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Mayo Clinic, Jacksonville, FL</wicri:regionArea><placeName><region type="state">Floride</region></placeName></affiliation></author><author><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name><affiliation wicri:level="1"><nlm:affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK</wicri:regionArea><wicri:noRegion>SK</wicri:noRegion></affiliation></author><author><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Genetics, University of British Columbia, Vancouver, BC</wicri:regionArea><wicri:noRegion>BC</wicri:noRegion></affiliation></author></analytic><series><title level="j">European journal of human genetics : EJHG</title><idno type="eISSN">1476-5438</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Essential Tremor (genetics)</term><term>Female</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Molecular Chaperones (genetics)</term><term>Polymorphism, Single Nucleotide</term><term>Vesicular Transport Proteins (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Molecular Chaperones</term><term>Vesicular Transport Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Essential Tremor</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>Female</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Microsatellite Repeats</term><term>Middle Aged</term><term>Polymorphism, Single Nucleotide</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Exome-sequencing analyses have identified vacuolar protein sorting 35 homolog (VPS35) and DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13) harboring disease-causing variants for Parkinson disease (PD). Owing to the suggested clinical, pathological and genetic overlap between PD and essential tremor (ET) we assessed the presence of two VPS35 and DNAJC13 disease-causing variants in ET patients. TaqMan probes were used to genotype VPS35 c.1858G>A (p.(D620N)) (rs188286943) and DNAJC13 c.2564A>G (p.(N855S)) (rs387907571) in 571 ET patients of European descent, and microsatellite markers were used to define the disease haplotype in variant carriers. Genotyping of DNAJC13 identified two ET patients harboring the c.2564A>G (p.(N855S)) variant previously identified in PD patients. Both patients appear to share the disease haplotype previously reported. ET patients with the VPS35 c.1858G>A (p.(D620N)) variants were not observed. Although a genetic link between PD and ET has been suggested, DNAJC13 c.2564A>G (p.(N855S)) represents the first disease-causing variant identified in both, and suggests the regulation of clathrin dynamics and endosomal trafficking in the pathophysiology of a subset of ET patients.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25118025</PMID><DateCreated><Year>2015</Year><Month>05</Month><Day>14</Day></DateCreated><DateCompleted><Year>2016</Year><Month>02</Month><Day>03</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>22</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1476-5438</ISSN><JournalIssue CitedMedium="Internet"><Volume>23</Volume><Issue>6</Issue><PubDate><Year>2015</Year><Month>Jun</Month></PubDate></JournalIssue><Title>European journal of human genetics : EJHG</Title><ISOAbbreviation>Eur. J. Hum. Genet.</ISOAbbreviation></Journal><ArticleTitle>VPS35 and DNAJC13 disease-causing variants in essential tremor.</ArticleTitle><Pagination><MedlinePgn>887-8</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/ejhg.2014.164</ELocationID><Abstract><AbstractText>Exome-sequencing analyses have identified vacuolar protein sorting 35 homolog (VPS35) and DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13) harboring disease-causing variants for Parkinson disease (PD). Owing to the suggested clinical, pathological and genetic overlap between PD and essential tremor (ET) we assessed the presence of two VPS35 and DNAJC13 disease-causing variants in ET patients. TaqMan probes were used to genotype VPS35 c.1858G>A (p.(D620N)) (rs188286943) and DNAJC13 c.2564A>G (p.(N855S)) (rs387907571) in 571 ET patients of European descent, and microsatellite markers were used to define the disease haplotype in variant carriers. Genotyping of DNAJC13 identified two ET patients harboring the c.2564A>G (p.(N855S)) variant previously identified in PD patients. Both patients appear to share the disease haplotype previously reported. ET patients with the VPS35 c.1858G>A (p.(D620N)) variants were not observed. Although a genetic link between PD and ET has been suggested, DNAJC13 c.2564A>G (p.(N855S)) represents the first disease-causing variant identified in both, and suggests the regulation of clathrin dynamics and endosomal trafficking in the pathophysiology of a subset of ET patients.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Rajput</LastName><ForeName>Alex</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ross</LastName><ForeName>Jay P</ForeName><Initials>JP</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bernales</LastName><ForeName>Cecily Q</ForeName><Initials>CQ</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rayaprolu</LastName><ForeName>Sruti</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Soto-Ortolaza</LastName><ForeName>Alexandra I</ForeName><Initials>AI</Initials><AffiliationInfo><Affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ross</LastName><ForeName>Owen A</ForeName><Initials>OA</Initials><AffiliationInfo><Affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>van Gerpen</LastName><ForeName>Jay</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Uitti</LastName><ForeName>Ryan J</ForeName><Initials>RJ</Initials><AffiliationInfo><Affiliation>Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wszolek</LastName><ForeName>Zbigniew K</ForeName><Initials>ZK</Initials><AffiliationInfo><Affiliation>Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rajput</LastName><ForeName>Ali H</ForeName><Initials>AH</Initials><AffiliationInfo><Affiliation>Division of Neurology, University of Saskatchewan and Saskatoon Health Region, Saskatoon, SK, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vilariño-Güell</LastName><ForeName>Carles</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>126949-1</GrantID><Agency>Canadian Institutes of Health Research</Agency><Country>Canada</Country></Grant><Grant><GrantID>R01 NS078086</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>NINDS R01NS078086</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P50 #NS072187</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant><Grant><GrantID>P50 NS072187</GrantID><Acronym>NS</Acronym><Agency>NINDS NIH HHS</Agency><Country>United States</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D052061">Research Support, N.I.H., Extramural</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>08</Month><Day>13</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Eur J Hum Genet</MedlineTA><NlmUniqueID>9302235</NlmUniqueID><ISSNLinking>1018-4813</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C507525">DNAJC13 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018832">Molecular Chaperones</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C419573">VPS35 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D033921">Vesicular Transport Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Neurology. 2004 Mar 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Version="1">21763482</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Am J Hum Genet. 2011 Jul 15;89(1):168-75</RefSource><PMID Version="1">21763483</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2012 Jan;18 Suppl 1:S138-9</RefSource><PMID Version="1">22166413</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Parkinsonism Relat Disord. 2013 May;19(5):563-5</RefSource><PMID Version="1">23415606</PMID></CommentsCorrections><CommentsCorrections RefType="Cites"><RefSource>Neurogenetics. 2010 Oct;11(4):401-8</RefSource><PMID Version="1">20369371</PMID></CommentsCorrections></CommentsCorrectionsList><MeshHeadingList><MeshHeading><DescriptorName UI="D000368" MajorTopicYN="N">Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000369" MajorTopicYN="N">Aged, 80 and over</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020329" MajorTopicYN="N">Essential Tremor</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006239" MajorTopicYN="N">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018895" MajorTopicYN="N">Microsatellite Repeats</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018832" MajorTopicYN="N">Molecular Chaperones</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="Y">Polymorphism, Single Nucleotide</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D033921" MajorTopicYN="N">Vesicular Transport Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC4795043</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2014</Year><Month>03</Month><Day>31</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2014</Year><Month>07</Month><Day>01</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2014</Year><Month>07</Month><Day>09</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2014</Year><Month>8</Month><Day>14</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2014</Year><Month>8</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>2</Month><Day>4</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">25118025</ArticleId><ArticleId IdType="pii">ejhg2014164</ArticleId><ArticleId IdType="doi">10.1038/ejhg.2014.164</ArticleId><ArticleId IdType="pmc">PMC4795043</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Canada</li><li>États-Unis</li></country><region><li>Floride</li></region></list><tree><country name="Canada"><noRegion><name sortKey="Rajput, Alex" sort="Rajput, Alex" uniqKey="Rajput A" first="Alex" last="Rajput">Alex Rajput</name></noRegion><name sortKey="Bernales, Cecily Q" sort="Bernales, Cecily Q" uniqKey="Bernales C" first="Cecily Q" last="Bernales">Cecily Q. Bernales</name><name sortKey="Rajput, Ali H" sort="Rajput, Ali H" uniqKey="Rajput A" first="Ali H" last="Rajput">Ali H. Rajput</name><name sortKey="Ross, Jay P" sort="Ross, Jay P" uniqKey="Ross J" first="Jay P" last="Ross">Jay P. Ross</name><name sortKey="Vilari O Guell, Carles" sort="Vilari O Guell, Carles" uniqKey="Vilari O Guell C" first="Carles" last="Vilari O-Güell">Carles Vilari O-Güell</name></country><country name="États-Unis"><region name="Floride"><name sortKey="Rayaprolu, Sruti" sort="Rayaprolu, Sruti" uniqKey="Rayaprolu S" first="Sruti" last="Rayaprolu">Sruti Rayaprolu</name></region><name sortKey="Ross, Owen A" sort="Ross, Owen A" uniqKey="Ross O" first="Owen A" last="Ross">Owen A. Ross</name><name sortKey="Soto Ortolaza, Alexandra I" sort="Soto Ortolaza, Alexandra I" uniqKey="Soto Ortolaza A" first="Alexandra I" last="Soto-Ortolaza">Alexandra I. Soto-Ortolaza</name><name sortKey="Uitti, Ryan J" sort="Uitti, Ryan J" uniqKey="Uitti R" first="Ryan J" last="Uitti">Ryan J. Uitti</name><name sortKey="Van Gerpen, Jay" sort="Van Gerpen, Jay" uniqKey="Van Gerpen J" first="Jay" last="Van Gerpen">Jay Van Gerpen</name><name sortKey="Wszolek, Zbigniew K" sort="Wszolek, Zbigniew K" uniqKey="Wszolek Z" first="Zbigniew K" last="Wszolek">Zbigniew K. Wszolek</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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