Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Identifieur interne : 002904 ( PubMed/Curation ); précédent : 002903; suivant : 002905Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.
Auteurs : Laura Addis [Royaume-Uni] ; Joo Wook Ahn [Royaume-Uni] ; Richard Dobson [Royaume-Uni] ; Abhishek Dixit [Royaume-Uni] ; Caroline M. Ogilvie [Royaume-Uni] ; Dalila Pinto [États-Unis] ; Andrea K. Vaags [Canada] ; Hilary Coon [États-Unis] ; Pauline Chaste [États-Unis] ; Scott Wilson [Royaume-Uni] ; Jeremy R. Parr [Royaume-Uni] ; Joris Andrieux [France] ; Bruno Lenne [France] ; Zeynep Tumer [Danemark] ; Vincenzo Leuzzi [Italie] ; Kristina Aubell [Autriche] ; Hannele Koillinen [Finlande] ; Sarah Curran [Royaume-Uni] ; Christian R. Marshall [Canada] ; Stephen W. Scherer [Canada] ; Lisa J. Strug [Canada] ; David A. Collier [Royaume-Uni] ; Deb K. Pal [Royaume-Uni]Source :
- Human mutation [ 1098-1004 ] ; 2015.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Bases de données génétiques, Données de la recherche comme sujet, Déficience intellectuelle (génétique), Délétion de séquence, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Hybridation génomique comparative, Jeune adulte, Modes de transmission héréditaire, Mâle, Nourrisson, Phénotype, Protéines de tissu nerveux (génétique), Trouble du spectre autistique (génétique), Troubles du langage (génétique), Variations de nombre de copies de segment d'ADN, Études cas-témoins, Études d'associations génétiques.
- MESH :
- génétique : Déficience intellectuelle, Protéines de tissu nerveux, Trouble du spectre autistique, Troubles du langage.
- Adolescent, Adulte, Bases de données génétiques, Données de la recherche comme sujet, Délétion de séquence, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Hybridation génomique comparative, Jeune adulte, Modes de transmission héréditaire, Mâle, Nourrisson, Phénotype, Variations de nombre de copies de segment d'ADN, Études cas-témoins, Études d'associations génétiques.
English descriptors
- KwdEn :
- Adolescent, Adult, Autism Spectrum Disorder (genetics), Case-Control Studies, Child, Child, Preschool, Comparative Genomic Hybridization, DNA Copy Number Variations, Databases, Genetic, Datasets as Topic, Female, Genetic Association Studies, Humans, Infant, Inheritance Patterns, Intellectual Disability (genetics), Language Disorders (genetics), Male, Nerve Tissue Proteins (genetics), Phenotype, Sequence Deletion, Young Adult.
- MESH :
- chemical , genetics : Nerve Tissue Proteins.
- genetics : Autism Spectrum Disorder, Intellectual Disability, Language Disorders.
- Adolescent, Adult, Case-Control Studies, Child, Child, Preschool, Comparative Genomic Hybridization, DNA Copy Number Variations, Databases, Genetic, Datasets as Topic, Female, Genetic Association Studies, Humans, Infant, Inheritance Patterns, Male, Phenotype, Sequence Deletion, Young Adult.
Abstract
Copy-number variations (CNVs) are important in the aetiology of neurodevelopmental disorders and show broad phenotypic manifestations. We compared the presence of small CNVs disrupting the ELP4-PAX6 locus in 4,092 UK individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridization, with WTCCC controls (n = 4,783). The phenotypic analysis was then extended using the DECIPHER database. We followed up association using an autism patient cohort (n = 3,143) compared with six additional control groups (n = 6,469). In the clinical discovery series, we identified eight cases with ELP4 deletions, and one with a partial duplication of ELP4 and PAX6. These cases were referred for neurological phenotypes including language impairment, developmental delay, autism, and epilepsy. Six further cases with a primary diagnosis of autism spectrum disorder (ASD) and similar secondary phenotypes were identified with ELP4 deletions, as well as another six (out of nine) with neurodevelopmental phenotypes from DECIPHER. CNVs at ELP4 were only present in 1/11,252 controls. We found a significant excess of CNVs in discovery cases compared with controls, P = 7.5 × 10(-3) , as well as for autism, P = 2.7 × 10(-3) . Our results suggest that ELP4 deletions are highly likely to be pathogenic, predisposing to a range of neurodevelopmental phenotypes from ASD to language impairment and epilepsy.
DOI: 10.1002/humu.22816
PubMed: 26010655
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Marshall</name><affiliation wicri:level="1"><nlm:affiliation>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Scherer, Stephen W" sort="Scherer, Stephen W" uniqKey="Scherer S" first="Stephen W" last="Scherer">Stephen W. Scherer</name><affiliation wicri:level="1"><nlm:affiliation>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Strug, Lisa J" sort="Strug, Lisa J" uniqKey="Strug L" first="Lisa J" last="Strug">Lisa J. Strug</name><affiliation wicri:level="1"><nlm:affiliation>Program in Genetics and Genome Biology, The Hospital for Sick Children, Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Program in Genetics and Genome Biology, The Hospital for Sick Children, Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Collier, David A" sort="Collier, David A" uniqKey="Collier D" first="David A" last="Collier">David A. Collier</name><affiliation wicri:level="1"><nlm:affiliation>Neuroscience Discovery Research, Eli Lilly and Company, Erl Wood, Surrey, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neuroscience Discovery Research, Eli Lilly and Company, Erl Wood, Surrey</wicri:regionArea></affiliation></author><author><name sortKey="Pal, Deb K" sort="Pal, Deb K" uniqKey="Pal D" first="Deb K" last="Pal">Deb K. Pal</name><affiliation wicri:level="1"><nlm:affiliation>Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26010655</idno><idno type="pmid">26010655</idno><idno type="doi">10.1002/humu.22816</idno><idno type="wicri:Area/PubMed/Corpus">002973</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002973</idno><idno type="wicri:Area/PubMed/Curation">002904</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002904</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.</title><author><name sortKey="Addis, Laura" sort="Addis, Laura" uniqKey="Addis L" first="Laura" last="Addis">Laura Addis</name><affiliation wicri:level="1"><nlm:affiliation>Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Ahn, Joo Wook" sort="Ahn, Joo Wook" uniqKey="Ahn J" first="Joo Wook" last="Ahn">Joo Wook Ahn</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Dobson, Richard" sort="Dobson, Richard" uniqKey="Dobson R" first="Richard" last="Dobson">Richard Dobson</name><affiliation wicri:level="1"><nlm:affiliation>Department of Biostatistics and NIHR BRC for Mental Health, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Biostatistics and NIHR BRC for Mental Health, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Dixit, Abhishek" sort="Dixit, Abhishek" uniqKey="Dixit A" first="Abhishek" last="Dixit">Abhishek Dixit</name><affiliation wicri:level="1"><nlm:affiliation>Department of Biostatistics and NIHR BRC for Mental Health, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Biostatistics and NIHR BRC for Mental Health, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Ogilvie, Caroline M" sort="Ogilvie, Caroline M" uniqKey="Ogilvie C" first="Caroline M" last="Ogilvie">Caroline M. Ogilvie</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Pinto, Dalila" sort="Pinto, Dalila" uniqKey="Pinto D" first="Dalila" last="Pinto">Dalila Pinto</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Psychiatry, and Genetics and Genomic Sciences, Seaver Autism Center, The Mindich Child Health & Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Departments of Psychiatry, and Genetics and Genomic Sciences, Seaver Autism Center, The Mindich Child Health & Development Institute, Icahn School of Medicine at Mount Sinai, New York</wicri:cityArea></affiliation></author><author><name sortKey="Vaags, Andrea K" sort="Vaags, Andrea K" uniqKey="Vaags A" first="Andrea K" last="Vaags">Andrea K. Vaags</name><affiliation wicri:level="1"><nlm:affiliation>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Coon, Hilary" sort="Coon, Hilary" uniqKey="Coon H" first="Hilary" last="Coon">Hilary Coon</name><affiliation wicri:level="2"><nlm:affiliation>Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Utah</region></placeName><wicri:cityArea>Department of Psychiatry, University of Utah School of Medicine, Salt Lake City</wicri:cityArea></affiliation></author><author><name sortKey="Chaste, Pauline" sort="Chaste, Pauline" uniqKey="Chaste P" first="Pauline" last="Chaste">Pauline Chaste</name><affiliation wicri:level="2"><nlm:affiliation>Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.</nlm:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">Pennsylvanie</region></placeName><wicri:cityArea>Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh</wicri:cityArea></affiliation></author><author><name sortKey="Wilson, Scott" sort="Wilson, Scott" uniqKey="Wilson S" first="Scott" last="Wilson">Scott Wilson</name><affiliation wicri:level="1"><nlm:affiliation>Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Parr, Jeremy R" sort="Parr, Jeremy R" uniqKey="Parr J" first="Jeremy R" last="Parr">Jeremy R. Parr</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Neuroscience, Newcastle University, Newcastle upon Tyne</wicri:regionArea></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation wicri:level="1"><nlm:affiliation>Institut de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille</wicri:regionArea></affiliation></author><author><name sortKey="Lenne, Bruno" sort="Lenne, Bruno" uniqKey="Lenne B" first="Bruno" last="Lenne">Bruno Lenne</name><affiliation wicri:level="1"><nlm:affiliation>Centre de Génétique Chromosomique, GHICL, Hôpital Saint Vincent de Paul, Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Génétique Chromosomique, GHICL, Hôpital Saint Vincent de Paul, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Tumer, Zeynep" sort="Tumer, Zeynep" uniqKey="Tumer Z" first="Zeynep" last="Tumer">Zeynep Tumer</name><affiliation wicri:level="1"><nlm:affiliation>Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen</wicri:regionArea></affiliation></author><author><name sortKey="Leuzzi, Vincenzo" sort="Leuzzi, Vincenzo" uniqKey="Leuzzi V" first="Vincenzo" last="Leuzzi">Vincenzo Leuzzi</name><affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Child Neurology and Psychiatry, Sapienza Università di Roma, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Child Neurology and Psychiatry, Sapienza Università di Roma, Rome</wicri:regionArea></affiliation></author><author><name sortKey="Aubell, Kristina" sort="Aubell, Kristina" uniqKey="Aubell K" first="Kristina" last="Aubell">Kristina Aubell</name><affiliation wicri:level="1"><nlm:affiliation>Institute of Human Genetics, Medical University of Graz, Graz, Austria.</nlm:affiliation><country xml:lang="fr">Autriche</country><wicri:regionArea>Institute of Human Genetics, Medical University of Graz, Graz</wicri:regionArea></affiliation></author><author><name sortKey="Koillinen, Hannele" sort="Koillinen, Hannele" uniqKey="Koillinen H" first="Hannele" last="Koillinen">Hannele Koillinen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.</nlm:affiliation><country xml:lang="fr">Finlande</country><wicri:regionArea>Department of Clinical Genetics, Helsinki University Hospital, Helsinki</wicri:regionArea></affiliation></author><author><name sortKey="Curran, Sarah" sort="Curran, Sarah" uniqKey="Curran S" first="Sarah" last="Curran">Sarah Curran</name><affiliation wicri:level="1"><nlm:affiliation>Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London</wicri:regionArea></affiliation></author><author><name sortKey="Marshall, Christian R" sort="Marshall, Christian R" uniqKey="Marshall C" first="Christian R" last="Marshall">Christian R. Marshall</name><affiliation wicri:level="1"><nlm:affiliation>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Scherer, Stephen W" sort="Scherer, Stephen W" uniqKey="Scherer S" first="Stephen W" last="Scherer">Stephen W. Scherer</name><affiliation wicri:level="1"><nlm:affiliation>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Strug, Lisa J" sort="Strug, Lisa J" uniqKey="Strug L" first="Lisa J" last="Strug">Lisa J. Strug</name><affiliation wicri:level="1"><nlm:affiliation>Program in Genetics and Genome Biology, The Hospital for Sick Children, Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Program in Genetics and Genome Biology, The Hospital for Sick Children, Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario</wicri:regionArea></affiliation></author><author><name sortKey="Collier, David A" sort="Collier, David A" uniqKey="Collier D" first="David A" last="Collier">David A. Collier</name><affiliation wicri:level="1"><nlm:affiliation>Neuroscience Discovery Research, Eli Lilly and Company, Erl Wood, Surrey, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Neuroscience Discovery Research, Eli Lilly and Company, Erl Wood, Surrey</wicri:regionArea></affiliation></author><author><name sortKey="Pal, Deb K" sort="Pal, Deb K" uniqKey="Pal D" first="Deb K" last="Pal">Deb K. Pal</name><affiliation wicri:level="1"><nlm:affiliation>Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London</wicri:regionArea></affiliation></author></analytic><series><title level="j">Human mutation</title><idno type="eISSN">1098-1004</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Autism Spectrum Disorder (genetics)</term><term>Case-Control Studies</term><term>Child</term><term>Child, Preschool</term><term>Comparative Genomic Hybridization</term><term>DNA Copy Number Variations</term><term>Databases, Genetic</term><term>Datasets as Topic</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Infant</term><term>Inheritance Patterns</term><term>Intellectual Disability (genetics)</term><term>Language Disorders (genetics)</term><term>Male</term><term>Nerve Tissue Proteins (genetics)</term><term>Phenotype</term><term>Sequence Deletion</term><term>Young Adult</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Bases de données génétiques</term><term>Données de la recherche comme sujet</term><term>Déficience intellectuelle (génétique)</term><term>Délétion de séquence</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Hybridation génomique comparative</term><term>Jeune adulte</term><term>Modes de transmission héréditaire</term><term>Mâle</term><term>Nourrisson</term><term>Phénotype</term><term>Protéines de tissu nerveux (génétique)</term><term>Trouble du spectre autistique (génétique)</term><term>Troubles du langage (génétique)</term><term>Variations de nombre de copies de segment d'ADN</term><term>Études cas-témoins</term><term>Études d'associations génétiques</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nerve Tissue Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Autism Spectrum Disorder</term><term>Intellectual Disability</term><term>Language Disorders</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term><term>Protéines de tissu nerveux</term><term>Trouble du spectre autistique</term><term>Troubles du langage</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Case-Control Studies</term><term>Child</term><term>Child, Preschool</term><term>Comparative Genomic Hybridization</term><term>DNA Copy Number Variations</term><term>Databases, Genetic</term><term>Datasets as Topic</term><term>Female</term><term>Genetic Association Studies</term><term>Humans</term><term>Infant</term><term>Inheritance Patterns</term><term>Male</term><term>Phenotype</term><term>Sequence Deletion</term><term>Young Adult</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Bases de données génétiques</term><term>Données de la recherche comme sujet</term><term>Délétion de séquence</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Hybridation génomique comparative</term><term>Jeune adulte</term><term>Modes de transmission héréditaire</term><term>Mâle</term><term>Nourrisson</term><term>Phénotype</term><term>Variations de nombre de copies de segment d'ADN</term><term>Études cas-témoins</term><term>Études d'associations génétiques</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Copy-number variations (CNVs) are important in the aetiology of neurodevelopmental disorders and show broad phenotypic manifestations. We compared the presence of small CNVs disrupting the ELP4-PAX6 locus in 4,092 UK individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridization, with WTCCC controls (n = 4,783). The phenotypic analysis was then extended using the DECIPHER database. We followed up association using an autism patient cohort (n = 3,143) compared with six additional control groups (n = 6,469). In the clinical discovery series, we identified eight cases with ELP4 deletions, and one with a partial duplication of ELP4 and PAX6. These cases were referred for neurological phenotypes including language impairment, developmental delay, autism, and epilepsy. Six further cases with a primary diagnosis of autism spectrum disorder (ASD) and similar secondary phenotypes were identified with ELP4 deletions, as well as another six (out of nine) with neurodevelopmental phenotypes from DECIPHER. CNVs at ELP4 were only present in 1/11,252 controls. We found a significant excess of CNVs in discovery cases compared with controls, P = 7.5 × 10(-3) , as well as for autism, P = 2.7 × 10(-3) . Our results suggest that ELP4 deletions are highly likely to be pathogenic, predisposing to a range of neurodevelopmental phenotypes from ASD to language impairment and epilepsy.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26010655</PMID><DateCreated><Year>2015</Year><Month>08</Month><Day>14</Day></DateCreated><DateCompleted><Year>2016</Year><Month>05</Month><Day>10</Day></DateCompleted><DateRevised><Year>2015</Year><Month>08</Month><Day>14</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1098-1004</ISSN><JournalIssue CitedMedium="Internet"><Volume>36</Volume><Issue>9</Issue><PubDate><Year>2015</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Human mutation</Title><ISOAbbreviation>Hum. Mutat.</ISOAbbreviation></Journal><ArticleTitle>Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.</ArticleTitle><Pagination><MedlinePgn>842-50</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/humu.22816</ELocationID><Abstract><AbstractText>Copy-number variations (CNVs) are important in the aetiology of neurodevelopmental disorders and show broad phenotypic manifestations. We compared the presence of small CNVs disrupting the ELP4-PAX6 locus in 4,092 UK individuals with a range of neurodevelopmental conditions, clinically referred for array comparative genomic hybridization, with WTCCC controls (n = 4,783). The phenotypic analysis was then extended using the DECIPHER database. We followed up association using an autism patient cohort (n = 3,143) compared with six additional control groups (n = 6,469). In the clinical discovery series, we identified eight cases with ELP4 deletions, and one with a partial duplication of ELP4 and PAX6. These cases were referred for neurological phenotypes including language impairment, developmental delay, autism, and epilepsy. Six further cases with a primary diagnosis of autism spectrum disorder (ASD) and similar secondary phenotypes were identified with ELP4 deletions, as well as another six (out of nine) with neurodevelopmental phenotypes from DECIPHER. CNVs at ELP4 were only present in 1/11,252 controls. We found a significant excess of CNVs in discovery cases compared with controls, P = 7.5 × 10(-3) , as well as for autism, P = 2.7 × 10(-3) . Our results suggest that ELP4 deletions are highly likely to be pathogenic, predisposing to a range of neurodevelopmental phenotypes from ASD to language impairment and epilepsy.</AbstractText><CopyrightInformation>© 2015 WILEY PERIODICALS, INC.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Addis</LastName><ForeName>Laura</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Neuroscience Discovery Research, Eli Lilly and Company, Erl Wood, Surrey, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ahn</LastName><ForeName>Joo Wook</ForeName><Initials>JW</Initials><AffiliationInfo><Affiliation>Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dobson</LastName><ForeName>Richard</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Biostatistics and NIHR BRC for Mental Health, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dixit</LastName><ForeName>Abhishek</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Biostatistics and NIHR BRC for Mental Health, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Ogilvie</LastName><ForeName>Caroline M</ForeName><Initials>CM</Initials><AffiliationInfo><Affiliation>Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pinto</LastName><ForeName>Dalila</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Departments of Psychiatry, and Genetics and Genomic Sciences, Seaver Autism Center, The Mindich Child Health & Development Institute, Icahn School of Medicine at Mount Sinai, New York, New York.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vaags</LastName><ForeName>Andrea K</ForeName><Initials>AK</Initials><AffiliationInfo><Affiliation>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Coon</LastName><ForeName>Hilary</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, Utah.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Chaste</LastName><ForeName>Pauline</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Wilson</LastName><ForeName>Scott</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Medicine and Pharmacology, University of Western Australia, Nedlands, Western Australia, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Parr</LastName><ForeName>Jeremy R</ForeName><Initials>JR</Initials><AffiliationInfo><Affiliation>Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andrieux</LastName><ForeName>Joris</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Institut de Génétique Médicale, Hopital Jeanne de Flandre, CHRU de Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Lenne</LastName><ForeName>Bruno</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Centre de Génétique Chromosomique, GHICL, Hôpital Saint Vincent de Paul, Lille, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tumer</LastName><ForeName>Zeynep</ForeName><Initials>Z</Initials><AffiliationInfo><Affiliation>Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Leuzzi</LastName><ForeName>Vincenzo</ForeName><Initials>V</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Child Neurology and Psychiatry, Sapienza Università di Roma, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Aubell</LastName><ForeName>Kristina</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Institute of Human Genetics, Medical University of Graz, Graz, Austria.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Koillinen</LastName><ForeName>Hannele</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Curran</LastName><ForeName>Sarah</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Cytogenetics, Guy's and St Thomas' NHS Foundation Trust, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Marshall</LastName><ForeName>Christian R</ForeName><Initials>CR</Initials><AffiliationInfo><Affiliation>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Department of Molecular Genetics, Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Scherer</LastName><ForeName>Stephen W</ForeName><Initials>SW</Initials><AffiliationInfo><Affiliation>The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Strug</LastName><ForeName>Lisa J</ForeName><Initials>LJ</Initials><AffiliationInfo><Affiliation>Program in Genetics and Genome Biology, The Hospital for Sick Children, Division of Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Collier</LastName><ForeName>David A</ForeName><Initials>DA</Initials><AffiliationInfo><Affiliation>Neuroscience Discovery Research, Eli Lilly and Company, Erl Wood, Surrey, UK.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Social, Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Pal</LastName><ForeName>Deb K</ForeName><Initials>DK</Initials><AffiliationInfo><Affiliation>Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><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>06</Month><Day>30</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Hum Mutat</MedlineTA><NlmUniqueID>9215429</NlmUniqueID><ISSNLinking>1059-7794</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C456976">ELP4 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009419">Nerve Tissue Proteins</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000067877" MajorTopicYN="N">Autism Spectrum Disorder</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D016022" MajorTopicYN="N">Case-Control Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055028" MajorTopicYN="N">Comparative Genomic Hybridization</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056915" MajorTopicYN="N">DNA Copy Number Variations</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D030541" MajorTopicYN="N">Databases, Genetic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D066264" MajorTopicYN="N">Datasets as Topic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056726" MajorTopicYN="Y">Genetic Association Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007223" MajorTopicYN="N">Infant</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D040582" MajorTopicYN="N">Inheritance Patterns</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008607" MajorTopicYN="N">Intellectual Disability</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007806" MajorTopicYN="N">Language Disorders</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009419" MajorTopicYN="N">Nerve Tissue Proteins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017384" MajorTopicYN="Y">Sequence Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">CNV</Keyword><Keyword MajorTopicYN="N">copy number variation</Keyword><Keyword MajorTopicYN="N">developmental</Keyword><Keyword MajorTopicYN="N">epilepsy and seizures</Keyword><Keyword MajorTopicYN="N">neurology</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>03</Month><Day>06</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>05</Month><Day>15</Day></PubMedPubDate><PubMedPubDate 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