Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia
Deletion of chromosome 3q29, which is associated with mental retardation and autism, was recently identified as being present in excess or occurring de novo in schizophrenia cases, being present in approximately 1/1,000 cases and 1/40,000 unscreened controls. Of the ∼20 genes in the commonly deleted...
Gespeichert in:
| Veröffentlicht in: | American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2011-12, Vol.156B (7), p.844-849 |
|---|---|
| Hauptverfasser: | , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 849 |
|---|---|
| container_issue | 7 |
| container_start_page | 844 |
| container_title | American journal of medical genetics. Part B, Neuropsychiatric genetics |
| container_volume | 156B |
| creator | Carroll, L.S. Williams, H.J. Walters, J. Kirov, G. O'Donovan, M.C. Owen, M.J. |
| description | Deletion of chromosome 3q29, which is associated with mental retardation and autism, was recently identified as being present in excess or occurring de novo in schizophrenia cases, being present in approximately 1/1,000 cases and 1/40,000 unscreened controls. Of the ∼20 genes in the commonly deleted region two are prominent candidates for involvement in the behavioral features of the microdeletion syndrome: DLG1 and PAK2. We report the result of mutation screening of the entire protein coding sequence of both genes in a sample of 234 unrelated cases and 272 unrelated controls from the UK. We find no evidence for any amino acid changing genetic variants in PAK2. We observe several rare and singleton non‐synonymous genetic variations at DLG1, however there is no excess of these variants in cases when compared to controls. Our sample was underpowered to detect very rare or low‐penetrance disease relevant alleles in the studied genes. Therefore very rare, low‐to‐moderate penetrance protein coding mutations or non‐coding mutations at DLG1 and/or PAK2, or a nearby gene, may reproduce the behavioral characteristics of the 3q29 microdeletion. © 2011 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/ajmg.b.31231 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1017964575</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1017964575</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4711-93c78ac7292f053af3011c6ddc13d9f85a6d732ac549c52d4b8db5e0c8cff903</originalsourceid><addsrcrecordid>eNp9kMtu2zAQRYkiRZO43WUdcJlF5HJI0ZSWrpO4D7vPAM2OoMiRzVQPh5SRul9fuUq87GoGg3MPMJeQM2BjYIy_Nff1alyMBXABL8gJSMmTNJN3R4c9hWNyGuM9Y4JJpV6RYw6ZZArYCXHLbWc63zY02oDY-GZF25J2a6Tigee09ja0DiscmF3jQlsjtaZx3pkO6QobjPRqMQfa3-jX6SdO_d629n_azTr0SvOavCxNFfHN0xyR25vr29n7ZPFl_mE2XSQ2VQBJLqzKjFU85yWTwpSCAdiJcxaEy8tMmolTghsr09xK7tIic4VEZjNbljkTI3IxaDehfdhi7HTto8WqMg2226iBgconqVSyRy8HtP8uxoCl3gRfm7DrIb2vVe9r1YX-V2uPnz-Zt0WN7gA_99gDYgAefYW7_8r09ONy_qxNhpSPHf4-pEz4pSdKKKl_fp7r7-rdXfrtB2gp_gKwdpKM</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1017964575</pqid></control><display><type>article</type><title>Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Carroll, L.S. ; Williams, H.J. ; Walters, J. ; Kirov, G. ; O'Donovan, M.C. ; Owen, M.J.</creator><creatorcontrib>Carroll, L.S. ; Williams, H.J. ; Walters, J. ; Kirov, G. ; O'Donovan, M.C. ; Owen, M.J.</creatorcontrib><description>Deletion of chromosome 3q29, which is associated with mental retardation and autism, was recently identified as being present in excess or occurring de novo in schizophrenia cases, being present in approximately 1/1,000 cases and 1/40,000 unscreened controls. Of the ∼20 genes in the commonly deleted region two are prominent candidates for involvement in the behavioral features of the microdeletion syndrome: DLG1 and PAK2. We report the result of mutation screening of the entire protein coding sequence of both genes in a sample of 234 unrelated cases and 272 unrelated controls from the UK. We find no evidence for any amino acid changing genetic variants in PAK2. We observe several rare and singleton non‐synonymous genetic variations at DLG1, however there is no excess of these variants in cases when compared to controls. Our sample was underpowered to detect very rare or low‐penetrance disease relevant alleles in the studied genes. Therefore very rare, low‐to‐moderate penetrance protein coding mutations or non‐coding mutations at DLG1 and/or PAK2, or a nearby gene, may reproduce the behavioral characteristics of the 3q29 microdeletion. © 2011 Wiley‐Liss, Inc.</description><identifier>ISSN: 1552-4841</identifier><identifier>ISSN: 1552-485X</identifier><identifier>EISSN: 1552-485X</identifier><identifier>DOI: 10.1002/ajmg.b.31231</identifier><identifier>PMID: 21850710</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>3q29 ; Adaptor Proteins, Signal Transducing - genetics ; Adult ; Amino acid sequence ; Autism ; Base Sequence ; chromosome 3 ; Chromosome Deletion ; Coding ; Discs Large Homolog 1 Protein ; DLG1 ; DNA Mutational Analysis ; Female ; Genetic Association Studies ; Genetic Testing ; Humans ; Male ; Membrane Proteins - genetics ; Mental retardation ; Molecular Sequence Data ; Mutation ; p21-Activated Kinases - genetics ; PAK2 ; Schizophrenia ; Schizophrenia - enzymology ; Schizophrenia - genetics ; Syndrome</subject><ispartof>American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-12, Vol.156B (7), p.844-849</ispartof><rights>Copyright © 2011 Wiley‐Liss, Inc.</rights><rights>Copyright © 2011 Wiley-Liss, Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4711-93c78ac7292f053af3011c6ddc13d9f85a6d732ac549c52d4b8db5e0c8cff903</citedby><cites>FETCH-LOGICAL-c4711-93c78ac7292f053af3011c6ddc13d9f85a6d732ac549c52d4b8db5e0c8cff903</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fajmg.b.31231$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fajmg.b.31231$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,777,781,1412,27905,27906,45555,45556</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21850710$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Carroll, L.S.</creatorcontrib><creatorcontrib>Williams, H.J.</creatorcontrib><creatorcontrib>Walters, J.</creatorcontrib><creatorcontrib>Kirov, G.</creatorcontrib><creatorcontrib>O'Donovan, M.C.</creatorcontrib><creatorcontrib>Owen, M.J.</creatorcontrib><title>Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia</title><title>American journal of medical genetics. Part B, Neuropsychiatric genetics</title><addtitle>Am. J. Med. Genet</addtitle><description>Deletion of chromosome 3q29, which is associated with mental retardation and autism, was recently identified as being present in excess or occurring de novo in schizophrenia cases, being present in approximately 1/1,000 cases and 1/40,000 unscreened controls. Of the ∼20 genes in the commonly deleted region two are prominent candidates for involvement in the behavioral features of the microdeletion syndrome: DLG1 and PAK2. We report the result of mutation screening of the entire protein coding sequence of both genes in a sample of 234 unrelated cases and 272 unrelated controls from the UK. We find no evidence for any amino acid changing genetic variants in PAK2. We observe several rare and singleton non‐synonymous genetic variations at DLG1, however there is no excess of these variants in cases when compared to controls. Our sample was underpowered to detect very rare or low‐penetrance disease relevant alleles in the studied genes. Therefore very rare, low‐to‐moderate penetrance protein coding mutations or non‐coding mutations at DLG1 and/or PAK2, or a nearby gene, may reproduce the behavioral characteristics of the 3q29 microdeletion. © 2011 Wiley‐Liss, Inc.</description><subject>3q29</subject><subject>Adaptor Proteins, Signal Transducing - genetics</subject><subject>Adult</subject><subject>Amino acid sequence</subject><subject>Autism</subject><subject>Base Sequence</subject><subject>chromosome 3</subject><subject>Chromosome Deletion</subject><subject>Coding</subject><subject>Discs Large Homolog 1 Protein</subject><subject>DLG1</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Genetic Association Studies</subject><subject>Genetic Testing</subject><subject>Humans</subject><subject>Male</subject><subject>Membrane Proteins - genetics</subject><subject>Mental retardation</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>p21-Activated Kinases - genetics</subject><subject>PAK2</subject><subject>Schizophrenia</subject><subject>Schizophrenia - enzymology</subject><subject>Schizophrenia - genetics</subject><subject>Syndrome</subject><issn>1552-4841</issn><issn>1552-485X</issn><issn>1552-485X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kMtu2zAQRYkiRZO43WUdcJlF5HJI0ZSWrpO4D7vPAM2OoMiRzVQPh5SRul9fuUq87GoGg3MPMJeQM2BjYIy_Nff1alyMBXABL8gJSMmTNJN3R4c9hWNyGuM9Y4JJpV6RYw6ZZArYCXHLbWc63zY02oDY-GZF25J2a6Tigee09ja0DiscmF3jQlsjtaZx3pkO6QobjPRqMQfa3-jX6SdO_d629n_azTr0SvOavCxNFfHN0xyR25vr29n7ZPFl_mE2XSQ2VQBJLqzKjFU85yWTwpSCAdiJcxaEy8tMmolTghsr09xK7tIic4VEZjNbljkTI3IxaDehfdhi7HTto8WqMg2226iBgconqVSyRy8HtP8uxoCl3gRfm7DrIb2vVe9r1YX-V2uPnz-Zt0WN7gA_99gDYgAefYW7_8r09ONy_qxNhpSPHf4-pEz4pSdKKKl_fp7r7-rdXfrtB2gp_gKwdpKM</recordid><startdate>201112</startdate><enddate>201112</enddate><creator>Carroll, L.S.</creator><creator>Williams, H.J.</creator><creator>Walters, J.</creator><creator>Kirov, G.</creator><creator>O'Donovan, M.C.</creator><creator>Owen, M.J.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>201112</creationdate><title>Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia</title><author>Carroll, L.S. ; Williams, H.J. ; Walters, J. ; Kirov, G. ; O'Donovan, M.C. ; Owen, M.J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4711-93c78ac7292f053af3011c6ddc13d9f85a6d732ac549c52d4b8db5e0c8cff903</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>3q29</topic><topic>Adaptor Proteins, Signal Transducing - genetics</topic><topic>Adult</topic><topic>Amino acid sequence</topic><topic>Autism</topic><topic>Base Sequence</topic><topic>chromosome 3</topic><topic>Chromosome Deletion</topic><topic>Coding</topic><topic>Discs Large Homolog 1 Protein</topic><topic>DLG1</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>Genetic Association Studies</topic><topic>Genetic Testing</topic><topic>Humans</topic><topic>Male</topic><topic>Membrane Proteins - genetics</topic><topic>Mental retardation</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>p21-Activated Kinases - genetics</topic><topic>PAK2</topic><topic>Schizophrenia</topic><topic>Schizophrenia - enzymology</topic><topic>Schizophrenia - genetics</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Carroll, L.S.</creatorcontrib><creatorcontrib>Williams, H.J.</creatorcontrib><creatorcontrib>Walters, J.</creatorcontrib><creatorcontrib>Kirov, G.</creatorcontrib><creatorcontrib>O'Donovan, M.C.</creatorcontrib><creatorcontrib>Owen, M.J.</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>American journal of medical genetics. Part B, Neuropsychiatric genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Carroll, L.S.</au><au>Williams, H.J.</au><au>Walters, J.</au><au>Kirov, G.</au><au>O'Donovan, M.C.</au><au>Owen, M.J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia</atitle><jtitle>American journal of medical genetics. Part B, Neuropsychiatric genetics</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2011-12</date><risdate>2011</risdate><volume>156B</volume><issue>7</issue><spage>844</spage><epage>849</epage><pages>844-849</pages><issn>1552-4841</issn><issn>1552-485X</issn><eissn>1552-485X</eissn><abstract>Deletion of chromosome 3q29, which is associated with mental retardation and autism, was recently identified as being present in excess or occurring de novo in schizophrenia cases, being present in approximately 1/1,000 cases and 1/40,000 unscreened controls. Of the ∼20 genes in the commonly deleted region two are prominent candidates for involvement in the behavioral features of the microdeletion syndrome: DLG1 and PAK2. We report the result of mutation screening of the entire protein coding sequence of both genes in a sample of 234 unrelated cases and 272 unrelated controls from the UK. We find no evidence for any amino acid changing genetic variants in PAK2. We observe several rare and singleton non‐synonymous genetic variations at DLG1, however there is no excess of these variants in cases when compared to controls. Our sample was underpowered to detect very rare or low‐penetrance disease relevant alleles in the studied genes. Therefore very rare, low‐to‐moderate penetrance protein coding mutations or non‐coding mutations at DLG1 and/or PAK2, or a nearby gene, may reproduce the behavioral characteristics of the 3q29 microdeletion. © 2011 Wiley‐Liss, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>21850710</pmid><doi>10.1002/ajmg.b.31231</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4841 |
| ispartof | American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-12, Vol.156B (7), p.844-849 |
| issn | 1552-4841 1552-485X 1552-485X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_1017964575 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | 3q29 Adaptor Proteins, Signal Transducing - genetics Adult Amino acid sequence Autism Base Sequence chromosome 3 Chromosome Deletion Coding Discs Large Homolog 1 Protein DLG1 DNA Mutational Analysis Female Genetic Association Studies Genetic Testing Humans Male Membrane Proteins - genetics Mental retardation Molecular Sequence Data Mutation p21-Activated Kinases - genetics PAK2 Schizophrenia Schizophrenia - enzymology Schizophrenia - genetics Syndrome |
| title | Mutation screening of the 3q29 microdeletion syndrome candidate genes DLG1 and PAK2 in schizophrenia |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-19T09%3A27%3A11IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutation%20screening%20of%20the%203q29%20microdeletion%20syndrome%20candidate%20genes%20DLG1%20and%20PAK2%20in%20schizophrenia&rft.jtitle=American%20journal%20of%20medical%20genetics.%20Part%20B,%20Neuropsychiatric%20genetics&rft.au=Carroll,%20L.S.&rft.date=2011-12&rft.volume=156B&rft.issue=7&rft.spage=844&rft.epage=849&rft.pages=844-849&rft.issn=1552-4841&rft.eissn=1552-485X&rft_id=info:doi/10.1002/ajmg.b.31231&rft_dat=%3Cproquest_cross%3E1017964575%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1017964575&rft_id=info:pmid/21850710&rfr_iscdi=true |