Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist
Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype–phenotype correlations...
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| Veröffentlicht in: | Journal of medical genetics 2009-01, Vol.46 (1), p.1-8 |
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| creator | Lintas, C Persico, A M |
| description | Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype–phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology. |
| doi_str_mv | 10.1136/jmg.2008.060871 |
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Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype–phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.2008.060871</identifier><identifier>PMID: 18728070</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Artificial chromosomes ; Autism ; Autistic Disorder - genetics ; Autistic Disorder - metabolism ; Biological and medical sciences ; Carrier Proteins ; Cell Adhesion Molecules, Neuronal ; Child clinical studies ; Clinical medicine ; Developmental disorders ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genetic Counseling ; Genetic Testing ; Genetics of eukaryotes. Biological and molecular evolution ; Genetics, Medical ; Genomes ; Humans ; Infantile autism ; Medical genetics ; Medical sciences ; Membrane Proteins - genetics ; Membrane Proteins - metabolism ; Methyl-CpG-Binding Protein 2 - genetics ; Methyl-CpG-Binding Protein 2 - metabolism ; Microfilament Proteins - genetics ; Microfilament Proteins - metabolism ; Molecular and cellular biology ; MSX1 Transcription Factor - genetics ; MSX1 Transcription Factor - metabolism ; Mutation ; Nerve Tissue Proteins - genetics ; Nerve Tissue Proteins - metabolism ; Phenotype ; Psychology. Psychoanalysis. Psychiatry ; Psychopathology. Psychiatry ; PTEN Phosphohydrolase - genetics ; PTEN Phosphohydrolase - metabolism ; Review ; Tensins ; Twins ; X chromosomes</subject><ispartof>Journal of medical genetics, 2009-01, Vol.46 (1), p.1-8</ispartof><rights>2009 BMJ Publishing Group</rights><rights>2009 INIST-CNRS</rights><rights>Copyright: 2009 2009 BMJ Publishing Group</rights><rights>Lintas et al 2009 2009</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b619t-7b12c7d757aaafd3f3833dc4cfcb84a0a71f1a322d0615adb5c2edb51003a84e3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://jmg.bmj.com/content/46/1/1.full.pdf$$EPDF$$P50$$Gbmj$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://jmg.bmj.com/content/46/1/1.full$$EHTML$$P50$$Gbmj$$Hfree_for_read</linktohtml><link.rule.ids>114,115,230,314,776,780,881,3182,23551,27903,27904,77346,77377</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=21003506$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18728070$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Lintas, C</creatorcontrib><creatorcontrib>Persico, A M</creatorcontrib><title>Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist</title><title>Journal of medical genetics</title><addtitle>J Med Genet</addtitle><description>Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype–phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.</description><subject>Artificial chromosomes</subject><subject>Autism</subject><subject>Autistic Disorder - genetics</subject><subject>Autistic Disorder - metabolism</subject><subject>Biological and medical sciences</subject><subject>Carrier Proteins</subject><subject>Cell Adhesion Molecules, Neuronal</subject><subject>Child clinical studies</subject><subject>Clinical medicine</subject><subject>Developmental disorders</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic Counseling</subject><subject>Genetic Testing</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genetics, Medical</subject><subject>Genomes</subject><subject>Humans</subject><subject>Infantile autism</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Membrane Proteins - metabolism</subject><subject>Methyl-CpG-Binding Protein 2 - genetics</subject><subject>Methyl-CpG-Binding Protein 2 - metabolism</subject><subject>Microfilament Proteins - genetics</subject><subject>Microfilament Proteins - metabolism</subject><subject>Molecular and cellular biology</subject><subject>MSX1 Transcription Factor - genetics</subject><subject>MSX1 Transcription Factor - metabolism</subject><subject>Mutation</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Nerve Tissue Proteins - metabolism</subject><subject>Phenotype</subject><subject>Psychology. Psychoanalysis. Psychiatry</subject><subject>Psychopathology. Psychiatry</subject><subject>PTEN Phosphohydrolase - genetics</subject><subject>PTEN Phosphohydrolase - metabolism</subject><subject>Review</subject><subject>Tensins</subject><subject>Twins</subject><subject>X chromosomes</subject><issn>0022-2593</issn><issn>1468-6244</issn><issn>1468-6244</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2009</creationdate><recordtype>article</recordtype><sourceid>9YT</sourceid><sourceid>ACMMV</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkduL1DAUxoMo7jj67JsURB-EzObSJqkPwjJ4g0VF9vIYTtN0pmObjkm67P73pnQcLy_7koSc3_k43_kQek7JilIuTnf9ZsUIUSsiiJL0AVrQXCgsWJ4_RAtCGMOsKPkJehLCjhDKJRWP0QlVkikiyQJdno2xDbE12X5r3RDv9jZk4OpsY52dvqNNVbd5m4UI0eKhwXFrMfiYNYPP0jszXetaA93vliT3FD1qoAv22eFeossP7y_Wn_D514-f12fnuBK0jFhWlBlZy0ICQFPzhivOa5ObxlQqBwKSNhQ4YzURtIC6Kgyz6aSEcFC55Uv0btbdj1Vva2Nd9NDpvW978Hd6gFb_W3HtVm-GG80E4bmiSeD1QcAPP8dkVfdtMLbrwNlhDFoIWRac5_eCjDDJSl4m8OV_4G4YvUtb0FQqSiWbTC7R6UwZP4TgbXOcmRI9JatTsnpKVs_Jpo4Xf1v9wx-iTMCrAwAhpdF4cCmKI8empRVEJA7PXMrJ3h7r4H9oIbks9JertRbf2NXF9-trPTl_M_NVv7t3yl-k6Mlx</recordid><startdate>20090101</startdate><enddate>20090101</enddate><creator>Lintas, C</creator><creator>Persico, A M</creator><general>BMJ Publishing Group Ltd</general><general>BMJ Publishing Group</general><general>BMJ Publishing Group LTD</general><scope>9YT</scope><scope>ACMMV</scope><scope>BSCLL</scope><scope>IQODW</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>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2P</scope><scope>M7P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20090101</creationdate><title>Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist</title><author>Lintas, C ; Persico, A M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b619t-7b12c7d757aaafd3f3833dc4cfcb84a0a71f1a322d0615adb5c2edb51003a84e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Artificial chromosomes</topic><topic>Autism</topic><topic>Autistic Disorder - genetics</topic><topic>Autistic Disorder - metabolism</topic><topic>Biological and medical sciences</topic><topic>Carrier Proteins</topic><topic>Cell Adhesion Molecules, Neuronal</topic><topic>Child clinical studies</topic><topic>Clinical medicine</topic><topic>Developmental disorders</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>General aspects. Genetic counseling</topic><topic>Genetic Counseling</topic><topic>Genetic Testing</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genetics, Medical</topic><topic>Genomes</topic><topic>Humans</topic><topic>Infantile autism</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Membrane Proteins - metabolism</topic><topic>Methyl-CpG-Binding Protein 2 - genetics</topic><topic>Methyl-CpG-Binding Protein 2 - metabolism</topic><topic>Microfilament Proteins - genetics</topic><topic>Microfilament Proteins - metabolism</topic><topic>Molecular and cellular biology</topic><topic>MSX1 Transcription Factor - genetics</topic><topic>MSX1 Transcription Factor - metabolism</topic><topic>Mutation</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Nerve Tissue Proteins - metabolism</topic><topic>Phenotype</topic><topic>Psychology. Psychoanalysis. Psychiatry</topic><topic>Psychopathology. Psychiatry</topic><topic>PTEN Phosphohydrolase - genetics</topic><topic>PTEN Phosphohydrolase - metabolism</topic><topic>Review</topic><topic>Tensins</topic><topic>Twins</topic><topic>X chromosomes</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Lintas, C</creatorcontrib><creatorcontrib>Persico, A M</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 One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest Central Basic</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><collection>MEDLINE - Academic</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>Lintas, C</au><au>Persico, A M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist</atitle><jtitle>Journal of medical genetics</jtitle><addtitle>J Med Genet</addtitle><date>2009-01-01</date><risdate>2009</risdate><volume>46</volume><issue>1</issue><spage>1</spage><epage>8</epage><pages>1-8</pages><issn>0022-2593</issn><issn>1468-6244</issn><eissn>1468-6244</eissn><coden>JMDGAE</coden><abstract>Autism spectrum disorders represent a group of developmental disorders with strong genetic underpinnings. Several cytogenetic abnormalities or de novo mutations able to cause autism have recently been uncovered. In this study, the literature was reviewed to highlight genotype–phenotype correlations between causal gene mutations or cytogenetic abnormalities and behavioural or morphological phenotypes. Based on this information, a set of practical guidelines is proposed to help clinical geneticists pursue targeted genetic testing for patients with autism whose clinical phenotype is suggestive of a specific genetic or genomic aetiology.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>18728070</pmid><doi>10.1136/jmg.2008.060871</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Artificial chromosomes Autism Autistic Disorder - genetics Autistic Disorder - metabolism Biological and medical sciences Carrier Proteins Cell Adhesion Molecules, Neuronal Child clinical studies Clinical medicine Developmental disorders Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetic Counseling Genetic Testing Genetics of eukaryotes. Biological and molecular evolution Genetics, Medical Genomes Humans Infantile autism Medical genetics Medical sciences Membrane Proteins - genetics Membrane Proteins - metabolism Methyl-CpG-Binding Protein 2 - genetics Methyl-CpG-Binding Protein 2 - metabolism Microfilament Proteins - genetics Microfilament Proteins - metabolism Molecular and cellular biology MSX1 Transcription Factor - genetics MSX1 Transcription Factor - metabolism Mutation Nerve Tissue Proteins - genetics Nerve Tissue Proteins - metabolism Phenotype Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry PTEN Phosphohydrolase - genetics PTEN Phosphohydrolase - metabolism Review Tensins Twins X chromosomes |
| title | Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist |
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