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

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.
Authors	W L Yan, X Y Guan, E D Green, R Nicolson, T K Yap, J Zhang, L K Jacobsen, D M Krasnewich, S Kumra, M C Lenane, P Gochman, P J Damschroder-Williams, L E Esterling, R T Long, B M Martin, E Sidransky, J L Rapoport, E I Ginns
Journal	American journal of medical genetics (Am J Med Genet) Vol. 96 Issue 6 Pg. 749-53 (Dec 04 2000) ISSN: 0148-7299 [Print] United States
PMID	11121174 (Publication Type: Case Reports, Journal Article)
Chemical References	DNA
Topics	Autistic Disorder (genetics, 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 Schizophrenia (genetics, pathology) Translocation, Genetic

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!