A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Identifieur interne : 000244 ( PubMed/Corpus ); précédent : 000243; suivant : 000245A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.
Auteurs : Celia Kun-Rodrigues ; Christos Ganos ; Rita Guerreiro ; Susanne A. Schneider ; Claudia Schulte ; Suzanne Lesage ; Lee Darwent ; Peter Holmans ; Andrew Singleton ; Kailash Bhatia ; Jose BrasSource :
- Human molecular genetics [ 1460-2083 ] ; 2015.
English descriptors
- KwdEn :
- Adult, Arsenite Transporting ATPases (genetics), DNA Mutational Analysis, Exome, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, PTEN Phosphohydrolase (genetics), Parkinson Disease (genetics), Parkinson Disease (metabolism), Pedigree, Protein Interaction Maps, Vesicular Transport Proteins (genetics), Young Adult.
- MESH :
- chemical , genetics : Arsenite Transporting ATPases, PTEN Phosphohydrolase, Vesicular Transport Proteins.
- genetics : Parkinson Disease.
- metabolism : Parkinson Disease.
- Adult, DNA Mutational Analysis, Exome, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Pedigree, Protein Interaction Maps, Young Adult.
Abstract
Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent-child trios where the proband presents with typical PD to unequivocally identify de novo mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding de novo mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry de novo mutations, PTEN, VAPB and ASNA1 are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein-protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for de novo mutations in sporadic disease may aid in the identification of novel disease-causing genes.
DOI: 10.1093/hmg/ddv376
PubMed: 26362251
Links to Exploration step
pubmed:26362251Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.</title><author><name sortKey="Kun Rodrigues, Celia" sort="Kun Rodrigues, Celia" uniqKey="Kun Rodrigues C" first="Celia" last="Kun-Rodrigues">Celia Kun-Rodrigues</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Ganos, Christos" sort="Ganos, Christos" uniqKey="Ganos C" first="Christos" last="Ganos">Christos Ganos</name><affiliation><nlm:affiliation>Department of Neurology, University Medical Center Hamburg-Eppendorf (UKE), Hamburg 20246, Germany, Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name><affiliation><nlm:affiliation>Department of Neurology, University Hospital Schleswig Holstein, Campus Kiel 24105, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Schulte, Claudia" sort="Schulte, Claudia" uniqKey="Schulte C" first="Claudia" last="Schulte">Claudia Schulte</name><affiliation><nlm:affiliation>German Center for Neurodegenerative Diseases, Tübingen, Germany, Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><nlm:affiliation>INSERM U M27, Pitié-Salpêtrière Hospital, Brain and Spinal Cord Institute (ICM), Paris 75013, France.</nlm:affiliation></affiliation></author><author><name sortKey="Darwent, Lee" sort="Darwent, Lee" uniqKey="Darwent L" first="Lee" last="Darwent">Lee Darwent</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Holmans, Peter" sort="Holmans, Peter" uniqKey="Holmans P" first="Peter" last="Holmans">Peter Holmans</name><affiliation><nlm:affiliation>Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff CF24 4HQ, UK and.</nlm:affiliation></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation><nlm:affiliation>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, MD 20892, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name><affiliation><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK, j.bras@ucl.ac.uk.</nlm:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26362251</idno><idno type="pmid">26362251</idno><idno type="doi">10.1093/hmg/ddv376</idno><idno type="wicri:Area/PubMed/Corpus">000244</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000244</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.</title><author><name sortKey="Kun Rodrigues, Celia" sort="Kun Rodrigues, Celia" uniqKey="Kun Rodrigues C" first="Celia" last="Kun-Rodrigues">Celia Kun-Rodrigues</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Ganos, Christos" sort="Ganos, Christos" uniqKey="Ganos C" first="Christos" last="Ganos">Christos Ganos</name><affiliation><nlm:affiliation>Department of Neurology, University Medical Center Hamburg-Eppendorf (UKE), Hamburg 20246, Germany, Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Guerreiro, Rita" sort="Guerreiro, Rita" uniqKey="Guerreiro R" first="Rita" last="Guerreiro">Rita Guerreiro</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Schneider, Susanne A" sort="Schneider, Susanne A" uniqKey="Schneider S" first="Susanne A" last="Schneider">Susanne A. Schneider</name><affiliation><nlm:affiliation>Department of Neurology, University Hospital Schleswig Holstein, Campus Kiel 24105, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Schulte, Claudia" sort="Schulte, Claudia" uniqKey="Schulte C" first="Claudia" last="Schulte">Claudia Schulte</name><affiliation><nlm:affiliation>German Center for Neurodegenerative Diseases, Tübingen, Germany, Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Lesage, Suzanne" sort="Lesage, Suzanne" uniqKey="Lesage S" first="Suzanne" last="Lesage">Suzanne Lesage</name><affiliation><nlm:affiliation>INSERM U M27, Pitié-Salpêtrière Hospital, Brain and Spinal Cord Institute (ICM), Paris 75013, France.</nlm:affiliation></affiliation></author><author><name sortKey="Darwent, Lee" sort="Darwent, Lee" uniqKey="Darwent L" first="Lee" last="Darwent">Lee Darwent</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Holmans, Peter" sort="Holmans, Peter" uniqKey="Holmans P" first="Peter" last="Holmans">Peter Holmans</name><affiliation><nlm:affiliation>Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff CF24 4HQ, UK and.</nlm:affiliation></affiliation></author><author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name><affiliation><nlm:affiliation>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, MD 20892, USA.</nlm:affiliation></affiliation></author><author><name sortKey="Bhatia, Kailash" sort="Bhatia, Kailash" uniqKey="Bhatia K" first="Kailash" last="Bhatia">Kailash Bhatia</name><affiliation><nlm:affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Bras, Jose" sort="Bras, Jose" uniqKey="Bras J" first="Jose" last="Bras">Jose Bras</name><affiliation><nlm:affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK, j.bras@ucl.ac.uk.</nlm:affiliation></affiliation></author></analytic><series><title level="j">Human molecular genetics</title><idno type="eISSN">1460-2083</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Arsenite Transporting ATPases (genetics)</term><term>DNA Mutational Analysis</term><term>Exome</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>PTEN Phosphohydrolase (genetics)</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (metabolism)</term><term>Pedigree</term><term>Protein Interaction Maps</term><term>Vesicular Transport Proteins (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arsenite Transporting ATPases</term><term>PTEN Phosphohydrolase</term><term>Vesicular Transport Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Exome</term><term>Genetic Predisposition to Disease</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Pedigree</term><term>Protein Interaction Maps</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent-child trios where the proband presents with typical PD to unequivocally identify de novo mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding de novo mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry de novo mutations, PTEN, VAPB and ASNA1 are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein-protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for de novo mutations in sporadic disease may aid in the identification of novel disease-causing genes.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26362251</PMID><DateCreated><Year>2015</Year><Month>11</Month><Day>06</Day></DateCreated><DateCompleted><Year>2016</Year><Month>08</Month><Day>26</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>26</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1460-2083</ISSN><JournalIssue CitedMedium="Internet"><Volume>24</Volume><Issue>23</Issue><PubDate><Year>2015</Year><Month>Dec</Month><Day>01</Day></PubDate></JournalIssue><Title>Human molecular genetics</Title><ISOAbbreviation>Hum. Mol. Genet.</ISOAbbreviation></Journal><ArticleTitle>A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.</ArticleTitle><Pagination><MedlinePgn>6711-20</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1093/hmg/ddv376</ELocationID><Abstract><AbstractText>Despite the many advances in our understanding of the genetic basis of Mendelian forms of Parkinson's disease (PD), a large number of early-onset cases still remain to be explained. Many of these cases, present with a form of disease that is identical to that underlined by genetic causes, but do not have mutations in any of the currently known disease-causing genes. Here, we hypothesized that de novo mutations may account for a proportion of these early-onset, sporadic cases. We performed exome sequencing in full parent-child trios where the proband presents with typical PD to unequivocally identify de novo mutations. This approach allows us to test all genes in the genome in an unbiased manner. We have identified and confirmed 20 coding de novo mutations in 21 trios. We have used publicly available population genetic data to compare variant frequencies and our independent in-house dataset of exome sequencing in PD (with over 1200 cases) to identify additional variants in the same genes. Of the genes identified to carry de novo mutations, PTEN, VAPB and ASNA1 are supported by various sources of data to be involved in PD. We show that these genes are reported to be within a protein-protein interaction network with PD genes and that they contain additional rare, case-specific, mutations in our independent cohort of PD cases. Our results support the involvement of these three genes in PD and suggest that testing for de novo mutations in sporadic disease may aid in the identification of novel disease-causing genes.</AbstractText><CopyrightInformation>© The Author 2015. Published by Oxford University Press.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kun-Rodrigues</LastName><ForeName>Celia</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ganos</LastName><ForeName>Christos</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Department of Neurology, University Medical Center Hamburg-Eppendorf (UKE), Hamburg 20246, Germany, Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guerreiro</LastName><ForeName>Rita</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schneider</LastName><ForeName>Susanne A</ForeName><Initials>SA</Initials><AffiliationInfo><Affiliation>Department of Neurology, University Hospital Schleswig Holstein, Campus Kiel 24105, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Schulte</LastName><ForeName>Claudia</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>German Center for Neurodegenerative Diseases, Tübingen, Germany, Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lesage</LastName><ForeName>Suzanne</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>INSERM U M27, Pitié-Salpêtrière Hospital, Brain and Spinal Cord Institute (ICM), Paris 75013, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Darwent</LastName><ForeName>Lee</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Holmans</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Institute of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff CF24 4HQ, UK and.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Singleton</LastName><ForeName>Andrew</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Laboratory of Neurogenetics, National Institutes on Aging, National Institutes of Health, Bethesda, MD 20892, USA.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><CollectiveName>International Parkinson's Disease Genomics Consortium (IPDGC)</CollectiveName></Author><Author ValidYN="Y"><LastName>Bhatia</LastName><ForeName>Kailash</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London WC1N 3BG, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bras</LastName><ForeName>Jose</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Department of Molecular Neuroscience, UCL Institute of Neurology, London WC1N 3AR, UK, j.bras@ucl.ac.uk.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MC_G1000735</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>089698</GrantID><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>MR/L010305/1</GrantID><Agency>Medical Research Council</Agency><Country>United Kingdom</Country></Grant><Grant><Agency>Wellcome Trust</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>09</Month><Day>11</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Hum Mol Genet</MedlineTA><NlmUniqueID>9208958</NlmUniqueID><ISSNLinking>0964-6906</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C489667">ASNA1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C496748">VAPB protein, 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Source="NLM">PMC4634375</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>08</Month><Day>04</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>09</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>9</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>9</Month><Day>13</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>8</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26362251</ArticleId><ArticleId IdType="pii">ddv376</ArticleId><ArticleId IdType="doi">10.1093/hmg/ddv376</ArticleId><ArticleId IdType="pmc">PMC4634375</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix 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