Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: Identification of a BAC contig spanning the translocation breakpoint at 7q21
Childhood‐onset schizophrenia (COS) is defined by the development of first psychotic symptoms by age 12. While recruiting patients with COS refractory to conventional treatments for a trial of atypical antipsychotic drugs, we discovered a unique case who has a familial t(1;7)(p22;q21) reciprocal tra...
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| Veröffentlicht in: | American journal of medical genetics 2000-12, Vol.96 (6), p.749-753 |
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| creator | Yan, WenLiang Guan, Xin-Yuan Green, Eric D. Nicolson, Rob Yap, Tieng K. Zhang, Jinghui Jacobsen, Leslie K. Krasnewich, Donna M. Kumra, Sanjiv Lenane, Marge C. Gochman, Peter Damschroder-Williams, Patricia J. Esterling, Lisa E. Long, Robert T. Martin, Brian M. Sidransky, Ellen Rapoport, Judith L. Ginns, Edward I. |
| description | Childhood‐onset schizophrenia (COS) is defined by the development of first psychotic symptoms by age 12. While recruiting patients with COS refractory to conventional treatments for a trial of atypical antipsychotic drugs, we discovered a unique case who has a familial t(1;7)(p22;q21) reciprocal translocation and onset of psychosis at age 9. The patient also has symptoms of autistic disorder, which are usually transient before the first psychotic episode among 40–50% of the childhood schizophrenics but has persisted in him even after the remission of psychosis. Cosegregating with the translocation, among the carriers in the family available for the study, are other significant psychopathologies, including alcohol/drug abuse, severe impulsivity, and paranoid personality and language delay. This case may provide a model for understanding the genetic basis of schizophrenia or autism. Here we report the progress toward characterization of genomic organization across the translocation breakpoint at 7q21. The polymorphic markers, D7S630/D7S492 and D7S2410/D7S646, immediately flanking the breakpoint, may be useful for further confirming the genetic linkage for schizophrenia or autism in this region. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:749–753, 2000. Published 2000 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/1096-8628(20001204)96:6<749::AID-AJMG10>3.0.CO;2-K |
| format | Article |
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While recruiting patients with COS refractory to conventional treatments for a trial of atypical antipsychotic drugs, we discovered a unique case who has a familial t(1;7)(p22;q21) reciprocal translocation and onset of psychosis at age 9. The patient also has symptoms of autistic disorder, which are usually transient before the first psychotic episode among 40–50% of the childhood schizophrenics but has persisted in him even after the remission of psychosis. Cosegregating with the translocation, among the carriers in the family available for the study, are other significant psychopathologies, including alcohol/drug abuse, severe impulsivity, and paranoid personality and language delay. This case may provide a model for understanding the genetic basis of schizophrenia or autism. Here we report the progress toward characterization of genomic organization across the translocation breakpoint at 7q21. The polymorphic markers, D7S630/D7S492 and D7S2410/D7S646, immediately flanking the breakpoint, may be useful for further confirming the genetic linkage for schizophrenia or autism in this region. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:749–753, 2000. 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J. Med. Genet</addtitle><description>Childhood‐onset schizophrenia (COS) is defined by the development of first psychotic symptoms by age 12. While recruiting patients with COS refractory to conventional treatments for a trial of atypical antipsychotic drugs, we discovered a unique case who has a familial t(1;7)(p22;q21) reciprocal translocation and onset of psychosis at age 9. The patient also has symptoms of autistic disorder, which are usually transient before the first psychotic episode among 40–50% of the childhood schizophrenics but has persisted in him even after the remission of psychosis. Cosegregating with the translocation, among the carriers in the family available for the study, are other significant psychopathologies, including alcohol/drug abuse, severe impulsivity, and paranoid personality and language delay. This case may provide a model for understanding the genetic basis of schizophrenia or autism. Here we report the progress toward characterization of genomic organization across the translocation breakpoint at 7q21. The polymorphic markers, D7S630/D7S492 and D7S2410/D7S646, immediately flanking the breakpoint, may be useful for further confirming the genetic linkage for schizophrenia or autism in this region. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:749–753, 2000. Published 2000 Wiley‐Liss, Inc.</description><subject>autistic disorder</subject><subject>Autistic Disorder - genetics</subject><subject>Autistic Disorder - pathology</subject><subject>Child</subject><subject>Chromosome Breakage - genetics</subject><subject>Chromosomes, Bacterial</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Chromosomes, Human, Pair 7 - genetics</subject><subject>Contig Mapping</subject><subject>DNA - genetics</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Male</subject><subject>psychosis</subject><subject>Schizophrenia - genetics</subject><subject>Schizophrenia - pathology</subject><subject>translocation</subject><subject>Translocation, Genetic</subject><issn>0148-7299</issn><issn>1096-8628</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2000</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqVkdtuEzEQhlcIREPhFZCvUHuxqU-7XqcIKSyQpi1EKkVcWo4PjdvNOrUdQXkb3hRHCUFI3HDl8a-ZbzT6imKE4BBBiE8Q5HXZ1Lg5whBChCE95vWofs0oH43G03fl-PzjBME3ZAiH7ewUlxePisF-6HExgIg2JcOcHxTPYrzNjBzgp8UBQggjxOig-NkuXKcX3uvS99EkENXC_fCrRTC9kydynVxMTgHtog_aBCB7DdIROmXHIBjlVsEr2YEUZB-7XCbn-xGYatMnZ932D7wFErwdt0D5HN-AuJJ97_obkBbm71EwD0berbzrE5AJsHuMnhdPrOyiebF7D4svH95ft2fl5WwybceXpaKMwJI0FbcMz6WkVtpaEWUrzonBtaUcEspgxTWxtYWYUq3IHHNKLDScaT1nUJPD4tWWm0-6X5uYxNJFZbpO9savo2CYNk1d89x4tW1UwccYjBWr4JYyPAgExUac2DgQGwfitziRg1pkcUJkcWIrThABRTsTWFxk6Mvd9vV8afQf5M4U2Z_9zXXm4b9W_nPjLsnccsvNns33PVeGO1Ezwirx9dNEXLHq-nN1di5a8gvi7sMZ</recordid><startdate>20001204</startdate><enddate>20001204</enddate><creator>Yan, WenLiang</creator><creator>Guan, Xin-Yuan</creator><creator>Green, Eric D.</creator><creator>Nicolson, Rob</creator><creator>Yap, Tieng K.</creator><creator>Zhang, Jinghui</creator><creator>Jacobsen, Leslie K.</creator><creator>Krasnewich, Donna M.</creator><creator>Kumra, Sanjiv</creator><creator>Lenane, Marge C.</creator><creator>Gochman, Peter</creator><creator>Damschroder-Williams, Patricia J.</creator><creator>Esterling, Lisa E.</creator><creator>Long, Robert T.</creator><creator>Martin, Brian M.</creator><creator>Sidransky, Ellen</creator><creator>Rapoport, Judith L.</creator><creator>Ginns, Edward I.</creator><general>John Wiley & Sons, Inc</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>7X8</scope></search><sort><creationdate>20001204</creationdate><title>Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: Identification of a BAC contig spanning the translocation breakpoint at 7q21</title><author>Yan, WenLiang ; 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J. Med. Genet</addtitle><date>2000-12-04</date><risdate>2000</risdate><volume>96</volume><issue>6</issue><spage>749</spage><epage>753</epage><pages>749-753</pages><issn>0148-7299</issn><eissn>1096-8628</eissn><abstract>Childhood‐onset schizophrenia (COS) is defined by the development of first psychotic symptoms by age 12. While recruiting patients with COS refractory to conventional treatments for a trial of atypical antipsychotic drugs, we discovered a unique case who has a familial t(1;7)(p22;q21) reciprocal translocation and onset of psychosis at age 9. The patient also has symptoms of autistic disorder, which are usually transient before the first psychotic episode among 40–50% of the childhood schizophrenics but has persisted in him even after the remission of psychosis. Cosegregating with the translocation, among the carriers in the family available for the study, are other significant psychopathologies, including alcohol/drug abuse, severe impulsivity, and paranoid personality and language delay. This case may provide a model for understanding the genetic basis of schizophrenia or autism. Here we report the progress toward characterization of genomic organization across the translocation breakpoint at 7q21. The polymorphic markers, D7S630/D7S492 and D7S2410/D7S646, immediately flanking the breakpoint, may be useful for further confirming the genetic linkage for schizophrenia or autism in this region. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:749–753, 2000. Published 2000 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>John Wiley & Sons, Inc</pub><pmid>11121174</pmid><doi>10.1002/1096-8628(20001204)96:6<749::AID-AJMG10>3.0.CO;2-K</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | American journal of medical genetics, 2000-12, Vol.96 (6), p.749-753 |
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| subjects | autistic disorder Autistic Disorder - genetics Autistic Disorder - pathology Child Chromosome Breakage - genetics Chromosomes, Bacterial Chromosomes, Human, Pair 1 - genetics Chromosomes, Human, Pair 7 - genetics Contig Mapping DNA - genetics Humans In Situ Hybridization, Fluorescence Male psychosis Schizophrenia - genetics Schizophrenia - pathology translocation Translocation, Genetic |
| title | Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: Identification of a BAC contig spanning the translocation breakpoint at 7q21 |
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