Childhood-onset schizophrenia/autistic disorder and t(1;7) reciprocal translocation: Identification of a BAC contig spanning the translocation breakpoint at 7q21

Wenliang Yan, Xin Yuan Guan, Eric D. Green, Rob Nicolson, Tieng K. Yap, Jinghui Zhang, Leslie K. Jacobsen, Donna M. Krasnewich, Sanjiv Kumra, Marge C. Lenane, Peter Gochman, Patricia J. Damschroder-Williams, Lisa E. Esterling, Robert T. Long, Brian M. Martin, Ellen Sidransky, Judith L. Rapoport, Edward I. Ginns

Research output: Contribution to journalArticlepeer-review

43 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)749-753
Number of pages5
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume96
Issue number6
DOIs
StatePublished - Dec 4 2000

Keywords

  • Autistic disorder
  • Psychosis
  • Translocation

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