Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR
We recently studied a patient who meets criteria for autistic disorder and has a 2q37 deletion. Molecular cytogenetic studies were carried out using DNA isolated from 22 different 2q37 mapped BACs to more precisely define the extent of the chromosome deletion. We also analyzed 2q37 mapped polymorphi...
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| Veröffentlicht in: | Cytogenetic and genome research 2001-01, Vol.94 (1-2), p.15-22 |
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| container_title | Cytogenetic and genome research |
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| creator | Smith, M. Escamilla, J.R. Filipek, P. Bocian, M.E. Modahl, C. Flodman, P. Spence, M.A. |
| description | We recently studied a patient who meets criteria for autistic disorder and has a 2q37 deletion. Molecular cytogenetic studies were carried out using DNA isolated from 22 different 2q37 mapped BACs to more precisely define the extent of the chromosome deletion. We also analyzed 2q37 mapped polymorphic markers. In addition DNA sequences of BACs in the deletion region were scanned to identify microsatellite repeats. We describe four new polymorphic microsatellite repeat markers in the 2q37.3 region. These markers enabled us to determine the parental origin of the deletion in our patient. DNA from 8–13 unrelated individuals was used to determine heterozygosity estimates for these markers. We review four genes deleted in our patient – genes whose known functions and sites of expression in the brain and/or bone make them candidates for involvement in autism and/or the osteodystrophy observed in patients with 2q37.3 deletions. |
| doi_str_mv | 10.1159/000048775 |
| format | Article |
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Molecular cytogenetic studies were carried out using DNA isolated from 22 different 2q37 mapped BACs to more precisely define the extent of the chromosome deletion. We also analyzed 2q37 mapped polymorphic markers. In addition DNA sequences of BACs in the deletion region were scanned to identify microsatellite repeats. We describe four new polymorphic microsatellite repeat markers in the 2q37.3 region. These markers enabled us to determine the parental origin of the deletion in our patient. DNA from 8–13 unrelated individuals was used to determine heterozygosity estimates for these markers. We review four genes deleted in our patient – genes whose known functions and sites of expression in the brain and/or bone make them candidates for involvement in autism and/or the osteodystrophy observed in patients with 2q37.3 deletions. </description><identifier>ISSN: 1424-8581</identifier><identifier>ISSN: 0301-0171</identifier><identifier>EISSN: 1424-859X</identifier><identifier>DOI: 10.1159/000048775</identifier><identifier>PMID: 11701947</identifier><identifier>CODEN: CGCGBR</identifier><language>eng</language><publisher>Basel, Switzerland: Karger</publisher><subject>Adolescent ; Adult ; Autistic Disorder - complications ; Autistic Disorder - genetics ; Autistic Disorder - physiopathology ; Biological and medical sciences ; Bone and Bones - metabolism ; Bone Diseases - complications ; Bone Diseases - genetics ; Brain - metabolism ; Child ; Child, Preschool ; chromosome 2 ; Chromosome Deletion ; Chromosomes, Artificial, Bacterial ; Chromosomes, Human, Pair 2 - genetics ; Contig Mapping ; DNA Probes ; Female ; Fundamental and applied biological sciences. Psychology ; Gene Deletion ; Genes. Genome ; Genetic Markers - genetics ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Microsatellite Repeats - genetics ; Molecular and cellular biology ; Molecular genetics ; Original Article ; Polymorphism, Genetic - genetics ; Psychometrics</subject><ispartof>Cytogenetic and genome research, 2001-01, Vol.94 (1-2), p.15-22</ispartof><rights>2001 S. Karger AG, Basel</rights><rights>2002 INIST-CNRS</rights><rights>Copyright 2001 S. Karger AG, Basel</rights><rights>Copyright S. Karger AG 2001</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c546t-956ec415b432b5ac7af726aea9845c0831c401e2b74e92023d6f87013ccda53</citedby><cites>FETCH-LOGICAL-c546t-956ec415b432b5ac7af726aea9845c0831c401e2b74e92023d6f87013ccda53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,2423,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14157787$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11701947$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Smith, M.</creatorcontrib><creatorcontrib>Escamilla, J.R.</creatorcontrib><creatorcontrib>Filipek, P.</creatorcontrib><creatorcontrib>Bocian, M.E.</creatorcontrib><creatorcontrib>Modahl, C.</creatorcontrib><creatorcontrib>Flodman, P.</creatorcontrib><creatorcontrib>Spence, M.A.</creatorcontrib><title>Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR</title><title>Cytogenetic and genome research</title><addtitle>Cytogenet Genome Res</addtitle><description>We recently studied a patient who meets criteria for autistic disorder and has a 2q37 deletion. Molecular cytogenetic studies were carried out using DNA isolated from 22 different 2q37 mapped BACs to more precisely define the extent of the chromosome deletion. We also analyzed 2q37 mapped polymorphic markers. In addition DNA sequences of BACs in the deletion region were scanned to identify microsatellite repeats. We describe four new polymorphic microsatellite repeat markers in the 2q37.3 region. These markers enabled us to determine the parental origin of the deletion in our patient. DNA from 8–13 unrelated individuals was used to determine heterozygosity estimates for these markers. We review four genes deleted in our patient – genes whose known functions and sites of expression in the brain and/or bone make them candidates for involvement in autism and/or the osteodystrophy observed in patients with 2q37.3 deletions. </description><subject>Adolescent</subject><subject>Adult</subject><subject>Autistic Disorder - complications</subject><subject>Autistic Disorder - genetics</subject><subject>Autistic Disorder - physiopathology</subject><subject>Biological and medical sciences</subject><subject>Bone and Bones - metabolism</subject><subject>Bone Diseases - complications</subject><subject>Bone Diseases - genetics</subject><subject>Brain - metabolism</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>chromosome 2</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Artificial, Bacterial</subject><subject>Chromosomes, Human, Pair 2 - genetics</subject><subject>Contig Mapping</subject><subject>DNA Probes</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene Deletion</subject><subject>Genes. Genome</subject><subject>Genetic Markers - genetics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Male</subject><subject>Microsatellite Repeats - genetics</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Original Article</subject><subject>Polymorphism, Genetic - genetics</subject><subject>Psychometrics</subject><issn>1424-8581</issn><issn>0301-0171</issn><issn>1424-859X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqF0UuLFDEQAOAgivvQg2dBwsIKHmbNs5PemzS6CiuKevDWpNOVMbs9SW_Sjcy_8Ceb2RlnQARzSah8qVBVCD2j5IJSWb8mZQmtlHyAjqlgYqFl_f3h_qzpETrJ-YYQqoWsHqMjShWhtVDH6NfHOICdB5PwEgJM3uIeBh_ATD4GHB1md1xd8E0U7kM-YDNPPq-wCT2OeYLYr_OU4vhjfYkTjDFNm3cGW5NhixwO8BOvTLqFlLGL6ZAu2wQQfFjibo0_N1-eoEfODBme7vZT9PXd22_N-8X1p6sPzZvrhZWimha1rMAKKjvBWSeNVcYpVhkwdSnREs2pFYQC65SAmhHG-8rpUjS3tjeSn6KX26xjincz5Kld-WxhGEyAOOdWMVZxpfV_IdWcSClogWd_wZs4p1BKaBkTTHJdiYJebZFNMecErh2TL21Zt5S0m1G2-1EW-2KXcO5W0B_kbnYFnO-AydYMLplgfT640h2l9MY937pbk5aQ9uDPN2f_vG2aq3vQjr3jvwEYurnZ</recordid><startdate>20010101</startdate><enddate>20010101</enddate><creator>Smith, M.</creator><creator>Escamilla, J.R.</creator><creator>Filipek, P.</creator><creator>Bocian, M.E.</creator><creator>Modahl, C.</creator><creator>Flodman, P.</creator><creator>Spence, M.A.</creator><general>Karger</general><general>S. Karger AG</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>7QP</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>88I</scope><scope>8AF</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>M2P</scope><scope>M7P</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>Q9U</scope><scope>RC3</scope><scope>S0X</scope><scope>7X8</scope></search><sort><creationdate>20010101</creationdate><title>Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR</title><author>Smith, M. ; Escamilla, J.R. ; Filipek, P. ; Bocian, M.E. ; Modahl, C. ; Flodman, P. ; Spence, M.A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c546t-956ec415b432b5ac7af726aea9845c0831c401e2b74e92023d6f87013ccda53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Autistic Disorder - complications</topic><topic>Autistic Disorder - genetics</topic><topic>Autistic Disorder - physiopathology</topic><topic>Biological and medical sciences</topic><topic>Bone and Bones - metabolism</topic><topic>Bone Diseases - complications</topic><topic>Bone Diseases - genetics</topic><topic>Brain - metabolism</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>chromosome 2</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Artificial, Bacterial</topic><topic>Chromosomes, Human, Pair 2 - genetics</topic><topic>Contig Mapping</topic><topic>DNA Probes</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene Deletion</topic><topic>Genes. Genome</topic><topic>Genetic Markers - genetics</topic><topic>Humans</topic><topic>In Situ Hybridization, Fluorescence</topic><topic>Male</topic><topic>Microsatellite Repeats - genetics</topic><topic>Molecular and cellular biology</topic><topic>Molecular genetics</topic><topic>Original Article</topic><topic>Polymorphism, Genetic - genetics</topic><topic>Psychometrics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Smith, M.</creatorcontrib><creatorcontrib>Escamilla, J.R.</creatorcontrib><creatorcontrib>Filipek, P.</creatorcontrib><creatorcontrib>Bocian, M.E.</creatorcontrib><creatorcontrib>Modahl, C.</creatorcontrib><creatorcontrib>Flodman, P.</creatorcontrib><creatorcontrib>Spence, M.A.</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>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</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 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>Science Database</collection><collection>Biological Science Database</collection><collection>Biotechnology and BioEngineering Abstracts</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>Genetics Abstracts</collection><collection>SIRS Editorial</collection><collection>MEDLINE - Academic</collection><jtitle>Cytogenetic and genome research</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Smith, M.</au><au>Escamilla, J.R.</au><au>Filipek, P.</au><au>Bocian, M.E.</au><au>Modahl, C.</au><au>Flodman, P.</au><au>Spence, M.A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR</atitle><jtitle>Cytogenetic and genome research</jtitle><addtitle>Cytogenet Genome Res</addtitle><date>2001-01-01</date><risdate>2001</risdate><volume>94</volume><issue>1-2</issue><spage>15</spage><epage>22</epage><pages>15-22</pages><issn>1424-8581</issn><issn>0301-0171</issn><eissn>1424-859X</eissn><coden>CGCGBR</coden><abstract>We recently studied a patient who meets criteria for autistic disorder and has a 2q37 deletion. Molecular cytogenetic studies were carried out using DNA isolated from 22 different 2q37 mapped BACs to more precisely define the extent of the chromosome deletion. We also analyzed 2q37 mapped polymorphic markers. In addition DNA sequences of BACs in the deletion region were scanned to identify microsatellite repeats. We describe four new polymorphic microsatellite repeat markers in the 2q37.3 region. These markers enabled us to determine the parental origin of the deletion in our patient. DNA from 8–13 unrelated individuals was used to determine heterozygosity estimates for these markers. We review four genes deleted in our patient – genes whose known functions and sites of expression in the brain and/or bone make them candidates for involvement in autism and/or the osteodystrophy observed in patients with 2q37.3 deletions. </abstract><cop>Basel, Switzerland</cop><pub>Karger</pub><pmid>11701947</pmid><doi>10.1159/000048775</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Cytogenetic and genome research, 2001-01, Vol.94 (1-2), p.15-22 |
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| source | Karger Journals; MEDLINE |
| subjects | Adolescent Adult Autistic Disorder - complications Autistic Disorder - genetics Autistic Disorder - physiopathology Biological and medical sciences Bone and Bones - metabolism Bone Diseases - complications Bone Diseases - genetics Brain - metabolism Child Child, Preschool chromosome 2 Chromosome Deletion Chromosomes, Artificial, Bacterial Chromosomes, Human, Pair 2 - genetics Contig Mapping DNA Probes Female Fundamental and applied biological sciences. Psychology Gene Deletion Genes. Genome Genetic Markers - genetics Humans In Situ Hybridization, Fluorescence Male Microsatellite Repeats - genetics Molecular and cellular biology Molecular genetics Original Article Polymorphism, Genetic - genetics Psychometrics |
| title | Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR |
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