Analysis of four neuroligin genes as candidates for autism
Neuroligins are cell-adhesion molecules located at the postsynaptic side of the synapse. Neuroligins interact with β -neurexins and this interaction is involved in the formation of functional synapses. Mutations in two X-linked neuroligin genes, NLGN3 and NLGN4 , have recently been implicated in pat...
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| Veröffentlicht in: | European journal of human genetics : EJHG 2005-12, Vol.13 (12), p.1285-1292 |
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| creator | Ylisaukko-oja, Tero Rehnström, Karola Auranen, Mari Vanhala, Raija Alen, Reija Kempas, Elli Ellonen, Pekka Turunen, Joni A Makkonen, Ismo Riikonen, Raili Nieminen-von Wendt, Taina von Wendt, Lennart Peltonen, Leena Järvelä, Irma |
| description | Neuroligins are cell-adhesion molecules located at the postsynaptic side of the synapse. Neuroligins interact with
β
-neurexins and this interaction is involved in the formation of functional synapses. Mutations in two X-linked neuroligin genes,
NLGN3
and
NLGN4
, have recently been implicated in pathogenesis of autism. The neuroligin gene family consists of five members (
NLGN1
at 3q26,
NLGN2
at 17p13,
NLGN3
at Xq13,
NLGN4
at Xp22, and
NLGN4Y
at Yq11), of which
NLGN1
and
NLGN3
are located within the best loci observed in our previous genome-wide scan for autism in the Finnish sample. Here, we report a detailed molecular genetic analysis of
NLGN1
,
NLGN3
,
NLGN4
, and
NLNG4Y
in the Finnish autism sample. Mutation analysis of 30 probands selected from families producing linkage evidence for Xq13 and/or 3q26 loci revealed several polymorphisms, but none of these seemed to be functional. Family-based association analysis in 100 families with autism spectrum disorders yielded only modest associations at
NLGN1
(rs1488545,
P
=0.002),
NLGN3
(DXS7132,
P
=0.014), and
NLGN4
(DXS996,
P
=0.031). We conclude that neuroligin mutations most probably represent rare causes of autism and that it is unlikely that the allelic variants in these genes would be major risk factors for autism. |
| doi_str_mv | 10.1038/sj.ejhg.5201474 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_68823206</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>19284990</sourcerecordid><originalsourceid>FETCH-LOGICAL-c531t-d57998139331ba73f84581b25fb3b4bbc3921949baeaa0b476e47fa8d380a593</originalsourceid><addsrcrecordid>eNqF0M9LwzAUB_AgitPp2ZsUQW_dkiZdEm9j-AsGXnYPL20yW7p25q2H_fdmrDAQxNNLyCcvL19C7hidMMrVFOuJq7_WkzyjTEhxRq5imaW54Oo8rilTqVCMj8g1Yk0PRrJLMmIzKqXk4oo8z1to9lhh0vnEd31IWteHrqnWVZusXeswAUwKaMuqhF3c-S4k0O8q3NyQCw8Nutuhjsnq9WW1eE-Xn28fi_kyLXLOdmmZS63jDJpzZkFyr0SumM1yb7kV1hZcZ0wLbcEBUBvHd0J6UCVXFHLNx-Tp2HYbuu_e4c5sKixc00Druh7NTKmMZ3T2L2Q6U0JrGuHDL1jHj8cc0GRMKslzdUDTIypChxicN9tQbSDsDaPmkL3B2hyyN0P28cb90La3G1ee_BB2BI8DACyg8QHaosKTk5zGEVl09OgwHrVrF07z_fX2D_MFm-Q</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>217873580</pqid></control><display><type>article</type><title>Analysis of four neuroligin genes as candidates for autism</title><source>MEDLINE</source><source>SpringerLink Journals</source><source>EZB-FREE-00999 freely available EZB journals</source><creator>Ylisaukko-oja, Tero ; Rehnström, Karola ; Auranen, Mari ; Vanhala, Raija ; Alen, Reija ; Kempas, Elli ; Ellonen, Pekka ; Turunen, Joni A ; Makkonen, Ismo ; Riikonen, Raili ; Nieminen-von Wendt, Taina ; von Wendt, Lennart ; Peltonen, Leena ; Järvelä, Irma</creator><creatorcontrib>Ylisaukko-oja, Tero ; Rehnström, Karola ; Auranen, Mari ; Vanhala, Raija ; Alen, Reija ; Kempas, Elli ; Ellonen, Pekka ; Turunen, Joni A ; Makkonen, Ismo ; Riikonen, Raili ; Nieminen-von Wendt, Taina ; von Wendt, Lennart ; Peltonen, Leena ; Järvelä, Irma</creatorcontrib><description>Neuroligins are cell-adhesion molecules located at the postsynaptic side of the synapse. Neuroligins interact with
β
-neurexins and this interaction is involved in the formation of functional synapses. Mutations in two X-linked neuroligin genes,
NLGN3
and
NLGN4
, have recently been implicated in pathogenesis of autism. The neuroligin gene family consists of five members (
NLGN1
at 3q26,
NLGN2
at 17p13,
NLGN3
at Xq13,
NLGN4
at Xp22, and
NLGN4Y
at Yq11), of which
NLGN1
and
NLGN3
are located within the best loci observed in our previous genome-wide scan for autism in the Finnish sample. Here, we report a detailed molecular genetic analysis of
NLGN1
,
NLGN3
,
NLGN4
, and
NLNG4Y
in the Finnish autism sample. Mutation analysis of 30 probands selected from families producing linkage evidence for Xq13 and/or 3q26 loci revealed several polymorphisms, but none of these seemed to be functional. Family-based association analysis in 100 families with autism spectrum disorders yielded only modest associations at
NLGN1
(rs1488545,
P
=0.002),
NLGN3
(DXS7132,
P
=0.014), and
NLGN4
(DXS996,
P
=0.031). We conclude that neuroligin mutations most probably represent rare causes of autism and that it is unlikely that the allelic variants in these genes would be major risk factors for autism.</description><identifier>ISSN: 1018-4813</identifier><identifier>EISSN: 1476-5438</identifier><identifier>DOI: 10.1038/sj.ejhg.5201474</identifier><identifier>PMID: 16077734</identifier><language>eng</language><publisher>Cham: Springer International Publishing</publisher><subject>Association analysis ; Autism ; Autistic Disorder - genetics ; Autistic Disorder - physiopathology ; Bioinformatics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Carrier Proteins - genetics ; Carrier Proteins - physiology ; Cell adhesion molecules ; Cell Adhesion Molecules, Neuronal ; Child clinical studies ; Chromosome 3 ; Classical genetics, quantitative genetics, hybrids ; Cytogenetics ; Developmental disorders ; DNA Mutational Analysis ; Fundamental and applied biological sciences. Psychology ; Gene Expression ; Gene loci ; General aspects. Genetic counseling ; Genetic analysis ; Genetic Markers ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Genomes ; Haplotypes ; Hospitals ; Human ; Human Genetics ; Humans ; Hypotheses ; Infantile autism ; Intellectual disabilities ; Medical genetics ; Medical sciences ; Membrane Proteins - genetics ; Membrane Proteins - physiology ; Microsatellite Repeats ; Molecular and cellular biology ; Mutation ; Nerve Tissue Proteins - genetics ; Nerve Tissue Proteins - physiology ; Neurology ; Polymorphism, Single Nucleotide ; Proteins ; Psychology. Psychoanalysis. Psychiatry ; Psychopathology. Psychiatry ; Public health ; Risk factors ; Signal Transduction - genetics ; Synapses - pathology ; Synapses - physiology ; Synaptogenesis</subject><ispartof>European journal of human genetics : EJHG, 2005-12, Vol.13 (12), p.1285-1292</ispartof><rights>Springer Nature Switzerland AG 2005</rights><rights>2006 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Dec 2005</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c531t-d57998139331ba73f84581b25fb3b4bbc3921949baeaa0b476e47fa8d380a593</citedby><cites>FETCH-LOGICAL-c531t-d57998139331ba73f84581b25fb3b4bbc3921949baeaa0b476e47fa8d380a593</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/sj.ejhg.5201474$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/sj.ejhg.5201474$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17309281$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16077734$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Ylisaukko-oja, Tero</creatorcontrib><creatorcontrib>Rehnström, Karola</creatorcontrib><creatorcontrib>Auranen, Mari</creatorcontrib><creatorcontrib>Vanhala, Raija</creatorcontrib><creatorcontrib>Alen, Reija</creatorcontrib><creatorcontrib>Kempas, Elli</creatorcontrib><creatorcontrib>Ellonen, Pekka</creatorcontrib><creatorcontrib>Turunen, Joni A</creatorcontrib><creatorcontrib>Makkonen, Ismo</creatorcontrib><creatorcontrib>Riikonen, Raili</creatorcontrib><creatorcontrib>Nieminen-von Wendt, Taina</creatorcontrib><creatorcontrib>von Wendt, Lennart</creatorcontrib><creatorcontrib>Peltonen, Leena</creatorcontrib><creatorcontrib>Järvelä, Irma</creatorcontrib><title>Analysis of four neuroligin genes as candidates for autism</title><title>European journal of human genetics : EJHG</title><addtitle>Eur J Hum Genet</addtitle><addtitle>Eur J Hum Genet</addtitle><description>Neuroligins are cell-adhesion molecules located at the postsynaptic side of the synapse. Neuroligins interact with
β
-neurexins and this interaction is involved in the formation of functional synapses. Mutations in two X-linked neuroligin genes,
NLGN3
and
NLGN4
, have recently been implicated in pathogenesis of autism. The neuroligin gene family consists of five members (
NLGN1
at 3q26,
NLGN2
at 17p13,
NLGN3
at Xq13,
NLGN4
at Xp22, and
NLGN4Y
at Yq11), of which
NLGN1
and
NLGN3
are located within the best loci observed in our previous genome-wide scan for autism in the Finnish sample. Here, we report a detailed molecular genetic analysis of
NLGN1
,
NLGN3
,
NLGN4
, and
NLNG4Y
in the Finnish autism sample. Mutation analysis of 30 probands selected from families producing linkage evidence for Xq13 and/or 3q26 loci revealed several polymorphisms, but none of these seemed to be functional. Family-based association analysis in 100 families with autism spectrum disorders yielded only modest associations at
NLGN1
(rs1488545,
P
=0.002),
NLGN3
(DXS7132,
P
=0.014), and
NLGN4
(DXS996,
P
=0.031). We conclude that neuroligin mutations most probably represent rare causes of autism and that it is unlikely that the allelic variants in these genes would be major risk factors for autism.</description><subject>Association analysis</subject><subject>Autism</subject><subject>Autistic Disorder - genetics</subject><subject>Autistic Disorder - physiopathology</subject><subject>Bioinformatics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Carrier Proteins - genetics</subject><subject>Carrier Proteins - physiology</subject><subject>Cell adhesion molecules</subject><subject>Cell Adhesion Molecules, Neuronal</subject><subject>Child clinical studies</subject><subject>Chromosome 3</subject><subject>Classical genetics, quantitative genetics, hybrids</subject><subject>Cytogenetics</subject><subject>Developmental disorders</subject><subject>DNA Mutational Analysis</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Expression</subject><subject>Gene loci</subject><subject>General aspects. Genetic counseling</subject><subject>Genetic analysis</subject><subject>Genetic Markers</subject><subject>Genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genomes</subject><subject>Haplotypes</subject><subject>Hospitals</subject><subject>Human</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Hypotheses</subject><subject>Infantile autism</subject><subject>Intellectual disabilities</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Membrane Proteins - genetics</subject><subject>Membrane Proteins - physiology</subject><subject>Microsatellite Repeats</subject><subject>Molecular and cellular biology</subject><subject>Mutation</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Nerve Tissue Proteins - physiology</subject><subject>Neurology</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Proteins</subject><subject>Psychology. Psychoanalysis. Psychiatry</subject><subject>Psychopathology. Psychiatry</subject><subject>Public health</subject><subject>Risk factors</subject><subject>Signal Transduction - genetics</subject><subject>Synapses - pathology</subject><subject>Synapses - physiology</subject><subject>Synaptogenesis</subject><issn>1018-4813</issn><issn>1476-5438</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqF0M9LwzAUB_AgitPp2ZsUQW_dkiZdEm9j-AsGXnYPL20yW7p25q2H_fdmrDAQxNNLyCcvL19C7hidMMrVFOuJq7_WkzyjTEhxRq5imaW54Oo8rilTqVCMj8g1Yk0PRrJLMmIzKqXk4oo8z1to9lhh0vnEd31IWteHrqnWVZusXeswAUwKaMuqhF3c-S4k0O8q3NyQCw8Nutuhjsnq9WW1eE-Xn28fi_kyLXLOdmmZS63jDJpzZkFyr0SumM1yb7kV1hZcZ0wLbcEBUBvHd0J6UCVXFHLNx-Tp2HYbuu_e4c5sKixc00Druh7NTKmMZ3T2L2Q6U0JrGuHDL1jHj8cc0GRMKslzdUDTIypChxicN9tQbSDsDaPmkL3B2hyyN0P28cb90La3G1ee_BB2BI8DACyg8QHaosKTk5zGEVl09OgwHrVrF07z_fX2D_MFm-Q</recordid><startdate>20051201</startdate><enddate>20051201</enddate><creator>Ylisaukko-oja, Tero</creator><creator>Rehnström, Karola</creator><creator>Auranen, Mari</creator><creator>Vanhala, Raija</creator><creator>Alen, Reija</creator><creator>Kempas, Elli</creator><creator>Ellonen, Pekka</creator><creator>Turunen, Joni A</creator><creator>Makkonen, Ismo</creator><creator>Riikonen, Raili</creator><creator>Nieminen-von Wendt, Taina</creator><creator>von Wendt, Lennart</creator><creator>Peltonen, Leena</creator><creator>Järvelä, Irma</creator><general>Springer International Publishing</general><general>Nature Publishing</general><general>Nature Publishing Group</general><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>8AO</scope><scope>8FD</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>CCPQU</scope><scope>DWQXO</scope><scope>FR3</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>M7P</scope><scope>P64</scope><scope>PHGZM</scope><scope>PHGZT</scope><scope>PJZUB</scope><scope>PKEHL</scope><scope>PPXIY</scope><scope>PQEST</scope><scope>PQGLB</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>RC3</scope><scope>7TK</scope><scope>7X8</scope></search><sort><creationdate>20051201</creationdate><title>Analysis of four neuroligin genes as candidates for autism</title><author>Ylisaukko-oja, Tero ; Rehnström, Karola ; Auranen, Mari ; Vanhala, Raija ; Alen, Reija ; Kempas, Elli ; Ellonen, Pekka ; Turunen, Joni A ; Makkonen, Ismo ; Riikonen, Raili ; Nieminen-von Wendt, Taina ; von Wendt, Lennart ; Peltonen, Leena ; Järvelä, Irma</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c531t-d57998139331ba73f84581b25fb3b4bbc3921949baeaa0b476e47fa8d380a593</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Association analysis</topic><topic>Autism</topic><topic>Autistic Disorder - genetics</topic><topic>Autistic Disorder - physiopathology</topic><topic>Bioinformatics</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Carrier Proteins - genetics</topic><topic>Carrier Proteins - physiology</topic><topic>Cell adhesion molecules</topic><topic>Cell Adhesion Molecules, Neuronal</topic><topic>Child clinical studies</topic><topic>Chromosome 3</topic><topic>Classical genetics, quantitative genetics, hybrids</topic><topic>Cytogenetics</topic><topic>Developmental disorders</topic><topic>DNA Mutational Analysis</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Expression</topic><topic>Gene loci</topic><topic>General aspects. Genetic counseling</topic><topic>Genetic analysis</topic><topic>Genetic Markers</topic><topic>Genetics</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Genomes</topic><topic>Haplotypes</topic><topic>Hospitals</topic><topic>Human</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Hypotheses</topic><topic>Infantile autism</topic><topic>Intellectual disabilities</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Membrane Proteins - genetics</topic><topic>Membrane Proteins - physiology</topic><topic>Microsatellite Repeats</topic><topic>Molecular and cellular biology</topic><topic>Mutation</topic><topic>Nerve Tissue Proteins - genetics</topic><topic>Nerve Tissue Proteins - physiology</topic><topic>Neurology</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Proteins</topic><topic>Psychology. Psychoanalysis. Psychiatry</topic><topic>Psychopathology. Psychiatry</topic><topic>Public health</topic><topic>Risk factors</topic><topic>Signal Transduction - genetics</topic><topic>Synapses - pathology</topic><topic>Synapses - physiology</topic><topic>Synaptogenesis</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Ylisaukko-oja, Tero</creatorcontrib><creatorcontrib>Rehnström, Karola</creatorcontrib><creatorcontrib>Auranen, Mari</creatorcontrib><creatorcontrib>Vanhala, Raija</creatorcontrib><creatorcontrib>Alen, Reija</creatorcontrib><creatorcontrib>Kempas, Elli</creatorcontrib><creatorcontrib>Ellonen, Pekka</creatorcontrib><creatorcontrib>Turunen, Joni A</creatorcontrib><creatorcontrib>Makkonen, Ismo</creatorcontrib><creatorcontrib>Riikonen, Raili</creatorcontrib><creatorcontrib>Nieminen-von Wendt, Taina</creatorcontrib><creatorcontrib>von Wendt, Lennart</creatorcontrib><creatorcontrib>Peltonen, Leena</creatorcontrib><creatorcontrib>Järvelä, Irma</creatorcontrib><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>ProQuest Pharma Collection</collection><collection>Technology Research 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>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</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>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</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>Genetics Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of human genetics : EJHG</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Ylisaukko-oja, Tero</au><au>Rehnström, Karola</au><au>Auranen, Mari</au><au>Vanhala, Raija</au><au>Alen, Reija</au><au>Kempas, Elli</au><au>Ellonen, Pekka</au><au>Turunen, Joni A</au><au>Makkonen, Ismo</au><au>Riikonen, Raili</au><au>Nieminen-von Wendt, Taina</au><au>von Wendt, Lennart</au><au>Peltonen, Leena</au><au>Järvelä, Irma</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of four neuroligin genes as candidates for autism</atitle><jtitle>European journal of human genetics : EJHG</jtitle><stitle>Eur J Hum Genet</stitle><addtitle>Eur J Hum Genet</addtitle><date>2005-12-01</date><risdate>2005</risdate><volume>13</volume><issue>12</issue><spage>1285</spage><epage>1292</epage><pages>1285-1292</pages><issn>1018-4813</issn><eissn>1476-5438</eissn><abstract>Neuroligins are cell-adhesion molecules located at the postsynaptic side of the synapse. Neuroligins interact with
β
-neurexins and this interaction is involved in the formation of functional synapses. Mutations in two X-linked neuroligin genes,
NLGN3
and
NLGN4
, have recently been implicated in pathogenesis of autism. The neuroligin gene family consists of five members (
NLGN1
at 3q26,
NLGN2
at 17p13,
NLGN3
at Xq13,
NLGN4
at Xp22, and
NLGN4Y
at Yq11), of which
NLGN1
and
NLGN3
are located within the best loci observed in our previous genome-wide scan for autism in the Finnish sample. Here, we report a detailed molecular genetic analysis of
NLGN1
,
NLGN3
,
NLGN4
, and
NLNG4Y
in the Finnish autism sample. Mutation analysis of 30 probands selected from families producing linkage evidence for Xq13 and/or 3q26 loci revealed several polymorphisms, but none of these seemed to be functional. Family-based association analysis in 100 families with autism spectrum disorders yielded only modest associations at
NLGN1
(rs1488545,
P
=0.002),
NLGN3
(DXS7132,
P
=0.014), and
NLGN4
(DXS996,
P
=0.031). We conclude that neuroligin mutations most probably represent rare causes of autism and that it is unlikely that the allelic variants in these genes would be major risk factors for autism.</abstract><cop>Cham</cop><pub>Springer International Publishing</pub><pmid>16077734</pmid><doi>10.1038/sj.ejhg.5201474</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1018-4813 |
| ispartof | European journal of human genetics : EJHG, 2005-12, Vol.13 (12), p.1285-1292 |
| issn | 1018-4813 1476-5438 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_68823206 |
| source | MEDLINE; SpringerLink Journals; EZB-FREE-00999 freely available EZB journals |
| subjects | Association analysis Autism Autistic Disorder - genetics Autistic Disorder - physiopathology Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Carrier Proteins - genetics Carrier Proteins - physiology Cell adhesion molecules Cell Adhesion Molecules, Neuronal Child clinical studies Chromosome 3 Classical genetics, quantitative genetics, hybrids Cytogenetics Developmental disorders DNA Mutational Analysis Fundamental and applied biological sciences. Psychology Gene Expression Gene loci General aspects. Genetic counseling Genetic analysis Genetic Markers Genetics Genetics of eukaryotes. Biological and molecular evolution Genomes Haplotypes Hospitals Human Human Genetics Humans Hypotheses Infantile autism Intellectual disabilities Medical genetics Medical sciences Membrane Proteins - genetics Membrane Proteins - physiology Microsatellite Repeats Molecular and cellular biology Mutation Nerve Tissue Proteins - genetics Nerve Tissue Proteins - physiology Neurology Polymorphism, Single Nucleotide Proteins Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Public health Risk factors Signal Transduction - genetics Synapses - pathology Synapses - physiology Synaptogenesis |
| title | Analysis of four neuroligin genes as candidates for autism |
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