Disruption of contactin 4 in three subjects with autism spectrum disorder
Background:Autism spectrum disorder (ASD) is a developmental disorder of the central nervous system of largely unknown aetiology. The prevalence of the syndrome underscores the need for biological markers and a clearer understanding of pathogenesis. For these reasons, a genetic study of idiopathic A...
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| Veröffentlicht in: | Journal of medical genetics 2009-03, Vol.46 (3), p.176-182 |
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| creator | Roohi, J Montagna, C Tegay, D H Palmer, L E DeVincent, C Pomeroy, J C Christian, S L Nowak, N Hatchwell, E |
| description | Background:Autism spectrum disorder (ASD) is a developmental disorder of the central nervous system of largely unknown aetiology. The prevalence of the syndrome underscores the need for biological markers and a clearer understanding of pathogenesis. For these reasons, a genetic study of idiopathic ASD was undertaken.Methods and results:Array based comparative genomic hybridisation identified a paternally inherited chromosome 3 copy number variation (CNV) in three subjects: a deletion in two siblings and a duplication in a third, unrelated individual. These variations were fluorescence in situ hybridisation (FISH) validated and the end points further delineated using a custom fine tiling oligonucleotide array. Polymerase chain reaction (PCR) products unique to the rearrangements were amplified and sequence analysis revealed the variations to have resulted from Alu Y mediated unequal recombinations interrupting contactin 4 (CNTN4).Conclusion:CNTN4 plays an essential role in the formation, maintenance, and plasticity of neuronal networks. Disruption of this gene is known to cause developmental delay and mental retardation. This report suggests that mutations affecting CNTN4 function may be relevant to ASD pathogenesis. |
| doi_str_mv | 10.1136/jmg.2008.057505 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2643049</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>4023439071</sourcerecordid><originalsourceid>FETCH-LOGICAL-b522t-d802795f27cdd394b7edc24f50d27313ef8af6a5eb1197e4683bb4fb39d9ffa53</originalsourceid><addsrcrecordid>eNqFkEtr3DAUhUVpaaZp19kFQckm4Imelr0JlEmaBoZ00zx2QrKljJyxNZXkPv59NHiYJqtuJND97jlHB4AjjOYY0_Ks6x_nBKFqjrjgiL8BM8zKqigJY2_BDCFCCsJregA-xNghhKnA5XtwgCvKakz5DFxfuBjGTXJ-gN7Cxg9JNckNkMF8pFUwBsZRd6ZJEf52aQXVmFzsYdzkpzD2sHXRh9aEj-CdVetoPu3uQ3D79fLH4lux_H51vfiyLDQnJBVthYiouSWiaVtaMy1M2xBmOWqJoJgaWylbKm40xrUw-TdUa2Y1rdvaWsXpITifdDej7vOuGVJQa7kJrlfhr_TKydeTwa3ko_8lSckoYnUW-LwTCP7naGKSnR_DkDNLLCqMBaElydTZRDXBxxiM3TtgJLfdy9y93HYvp-7zxvHLYP_4XdkZONkBKjZqbYMaGhf3HMnWFWFb62LiXEzmz36uwpMsBRVc3twt5MP9zd0DqbhcZv504nXf_TflMxnHqlM</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1781172362</pqid></control><display><type>article</type><title>Disruption of contactin 4 in three subjects with autism spectrum disorder</title><source>MEDLINE</source><source>BMJ Journals - NESLi2</source><creator>Roohi, J ; Montagna, C ; Tegay, D H ; Palmer, L E ; DeVincent, C ; Pomeroy, J C ; Christian, S L ; Nowak, N ; Hatchwell, E</creator><creatorcontrib>Roohi, J ; Montagna, C ; Tegay, D H ; Palmer, L E ; DeVincent, C ; Pomeroy, J C ; Christian, S L ; Nowak, N ; Hatchwell, E</creatorcontrib><description>Background:Autism spectrum disorder (ASD) is a developmental disorder of the central nervous system of largely unknown aetiology. The prevalence of the syndrome underscores the need for biological markers and a clearer understanding of pathogenesis. For these reasons, a genetic study of idiopathic ASD was undertaken.Methods and results:Array based comparative genomic hybridisation identified a paternally inherited chromosome 3 copy number variation (CNV) in three subjects: a deletion in two siblings and a duplication in a third, unrelated individual. These variations were fluorescence in situ hybridisation (FISH) validated and the end points further delineated using a custom fine tiling oligonucleotide array. Polymerase chain reaction (PCR) products unique to the rearrangements were amplified and sequence analysis revealed the variations to have resulted from Alu Y mediated unequal recombinations interrupting contactin 4 (CNTN4).Conclusion:CNTN4 plays an essential role in the formation, maintenance, and plasticity of neuronal networks. Disruption of this gene is known to cause developmental delay and mental retardation. This report suggests that mutations affecting CNTN4 function may be relevant to ASD pathogenesis.</description><identifier>ISSN: 0022-2593</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.2008.057505</identifier><identifier>PMID: 18349135</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Adolescent ; Alu Elements ; Artificial chromosomes ; Autism ; Autistic Disorder - genetics ; Autistic Disorder - pathology ; Biological and medical sciences ; Cell Adhesion Molecules, Neuronal - genetics ; Child ; Child clinical studies ; Chromosomes, Human, Pair 3 ; Cloning ; Comparative Genomic Hybridization ; Contactins ; Developmental disabilities ; Developmental disorders ; Families & family life ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Deletion ; Gene Dosage ; Gene Duplication ; Genetics of eukaryotes. Biological and molecular evolution ; Genomes ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Infantile autism ; Laboratories ; Letters to JMG ; Male ; Medical genetics ; Medical sciences ; Molecular and cellular biology ; Mutation ; Oligonucleotide Array Sequence Analysis ; Polymerase Chain Reaction ; Psychology. Psychoanalysis. Psychiatry ; Psychopathology. Psychiatry ; Twins ; Young Adult</subject><ispartof>Journal of medical genetics, 2009-03, Vol.46 (3), p.176-182</ispartof><rights>Roohi et al 2009</rights><rights>2009 INIST-CNRS</rights><rights>Copyright: 2009 (c) Roohi et al 2009</rights><rights>Roohi et al 2009 2009</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b522t-d802795f27cdd394b7edc24f50d27313ef8af6a5eb1197e4683bb4fb39d9ffa53</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://jmg.bmj.com/content/46/3/176.full.pdf$$EPDF$$P50$$Gbmj$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://jmg.bmj.com/content/46/3/176.full$$EHTML$$P50$$Gbmj$$Hfree_for_read</linktohtml><link.rule.ids>114,115,230,314,776,780,881,3183,23550,27901,27902,77569,77600</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21178242$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18349135$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Roohi, J</creatorcontrib><creatorcontrib>Montagna, C</creatorcontrib><creatorcontrib>Tegay, D H</creatorcontrib><creatorcontrib>Palmer, L E</creatorcontrib><creatorcontrib>DeVincent, C</creatorcontrib><creatorcontrib>Pomeroy, J C</creatorcontrib><creatorcontrib>Christian, S L</creatorcontrib><creatorcontrib>Nowak, N</creatorcontrib><creatorcontrib>Hatchwell, E</creatorcontrib><title>Disruption of contactin 4 in three subjects with autism spectrum disorder</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Background:Autism spectrum disorder (ASD) is a developmental disorder of the central nervous system of largely unknown aetiology. The prevalence of the syndrome underscores the need for biological markers and a clearer understanding of pathogenesis. For these reasons, a genetic study of idiopathic ASD was undertaken.Methods and results:Array based comparative genomic hybridisation identified a paternally inherited chromosome 3 copy number variation (CNV) in three subjects: a deletion in two siblings and a duplication in a third, unrelated individual. These variations were fluorescence in situ hybridisation (FISH) validated and the end points further delineated using a custom fine tiling oligonucleotide array. Polymerase chain reaction (PCR) products unique to the rearrangements were amplified and sequence analysis revealed the variations to have resulted from Alu Y mediated unequal recombinations interrupting contactin 4 (CNTN4).Conclusion:CNTN4 plays an essential role in the formation, maintenance, and plasticity of neuronal networks. Disruption of this gene is known to cause developmental delay and mental retardation. This report suggests that mutations affecting CNTN4 function may be relevant to ASD pathogenesis.</description><subject>Adolescent</subject><subject>Alu Elements</subject><subject>Artificial chromosomes</subject><subject>Autism</subject><subject>Autistic Disorder - genetics</subject><subject>Autistic Disorder - pathology</subject><subject>Biological and medical sciences</subject><subject>Cell Adhesion Molecules, Neuronal - genetics</subject><subject>Child</subject><subject>Child clinical studies</subject><subject>Chromosomes, Human, Pair 3</subject><subject>Cloning</subject><subject>Comparative Genomic Hybridization</subject><subject>Contactins</subject><subject>Developmental disabilities</subject><subject>Developmental disorders</subject><subject>Families & family life</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Deletion</subject><subject>Gene Dosage</subject><subject>Gene Duplication</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genomes</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Infant</subject><subject>Infantile autism</subject><subject>Laboratories</subject><subject>Letters to JMG</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Molecular and cellular biology</subject><subject>Mutation</subject><subject>Oligonucleotide Array Sequence Analysis</subject><subject>Polymerase Chain Reaction</subject><subject>Psychology. Psychoanalysis. Psychiatry</subject><subject>Psychopathology. 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Psychology</topic><topic>Gene Deletion</topic><topic>Gene Dosage</topic><topic>Gene Duplication</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genomes</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Infant</topic><topic>Infantile autism</topic><topic>Laboratories</topic><topic>Letters to JMG</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Molecular and cellular biology</topic><topic>Mutation</topic><topic>Oligonucleotide Array Sequence Analysis</topic><topic>Polymerase Chain Reaction</topic><topic>Psychology. Psychoanalysis. Psychiatry</topic><topic>Psychopathology. Psychiatry</topic><topic>Twins</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Roohi, J</creatorcontrib><creatorcontrib>Montagna, C</creatorcontrib><creatorcontrib>Tegay, D H</creatorcontrib><creatorcontrib>Palmer, L E</creatorcontrib><creatorcontrib>DeVincent, C</creatorcontrib><creatorcontrib>Pomeroy, J C</creatorcontrib><creatorcontrib>Christian, S L</creatorcontrib><creatorcontrib>Nowak, N</creatorcontrib><creatorcontrib>Hatchwell, E</creatorcontrib><collection>BMJ Open Access Journals</collection><collection>BMJ Journals:Open Access</collection><collection>Istex</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Science Database</collection><collection>Biological Science Database</collection><collection>ProQuest Central (New)</collection><collection>ProQuest One Academic (New)</collection><collection>ProQuest Health & Medical Research Collection</collection><collection>ProQuest One Academic Middle East (New)</collection><collection>ProQuest One Health & Nursing</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Applied & Life Sciences</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Roohi, J</au><au>Montagna, C</au><au>Tegay, D H</au><au>Palmer, L E</au><au>DeVincent, C</au><au>Pomeroy, J C</au><au>Christian, S L</au><au>Nowak, N</au><au>Hatchwell, E</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Disruption of contactin 4 in three subjects with autism spectrum disorder</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2009-03-01</date><risdate>2009</risdate><volume>46</volume><issue>3</issue><spage>176</spage><epage>182</epage><pages>176-182</pages><issn>0022-2593</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Background:Autism spectrum disorder (ASD) is a developmental disorder of the central nervous system of largely unknown aetiology. The prevalence of the syndrome underscores the need for biological markers and a clearer understanding of pathogenesis. For these reasons, a genetic study of idiopathic ASD was undertaken.Methods and results:Array based comparative genomic hybridisation identified a paternally inherited chromosome 3 copy number variation (CNV) in three subjects: a deletion in two siblings and a duplication in a third, unrelated individual. These variations were fluorescence in situ hybridisation (FISH) validated and the end points further delineated using a custom fine tiling oligonucleotide array. Polymerase chain reaction (PCR) products unique to the rearrangements were amplified and sequence analysis revealed the variations to have resulted from Alu Y mediated unequal recombinations interrupting contactin 4 (CNTN4).Conclusion:CNTN4 plays an essential role in the formation, maintenance, and plasticity of neuronal networks. Disruption of this gene is known to cause developmental delay and mental retardation. This report suggests that mutations affecting CNTN4 function may be relevant to ASD pathogenesis.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>18349135</pmid><doi>10.1136/jmg.2008.057505</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adolescent Alu Elements Artificial chromosomes Autism Autistic Disorder - genetics Autistic Disorder - pathology Biological and medical sciences Cell Adhesion Molecules, Neuronal - genetics Child Child clinical studies Chromosomes, Human, Pair 3 Cloning Comparative Genomic Hybridization Contactins Developmental disabilities Developmental disorders Families & family life Female Fundamental and applied biological sciences. Psychology Gene Deletion Gene Dosage Gene Duplication Genetics of eukaryotes. Biological and molecular evolution Genomes Humans In Situ Hybridization, Fluorescence Infant Infantile autism Laboratories Letters to JMG Male Medical genetics Medical sciences Molecular and cellular biology Mutation Oligonucleotide Array Sequence Analysis Polymerase Chain Reaction Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Twins Young Adult |
| title | Disruption of contactin 4 in three subjects with autism spectrum disorder |
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