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A balanced reciprocal translocation t(5;7)(q14;q32) associated with autistic disorder: molecular analysis of the chromosome 7 breakpoint.

Journal article
Authors Dmitry Tentler
Göran Brandberg
Catalina Betancur
Christopher Gillberg
Göran Annerén
Christina Orsmark
Eric D Green
Birgit Carlsson
Niklas Dahl
Published in American Journal of Medical Genetics
Volume 105
Issue 8
Pages 729-736
ISSN 0148-7299
Publication year 2001
Published at Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Pages 729-736
Language en
Keywords Autistic Disorder, Genetics, Pathology, Child, Chromosome Breakage, Chromosome Mapping, Chromosomes, Human, Pair 5, Genetics, Chromosomes, Human, Pair 7, Genetics, DNA, Chemistry, Genetics, Metabolism, DNA Methylation, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genetics, Humans, In Situ Hybridization, Fluorescence, Microsatellite Repeats, Mutation, Translocation, Genetic
Subject categories Medical and Health Sciences, Psychiatry


Autism is a neuropsychiatric disorder characterized by impairments in social interaction, restricted and stereotypic pattern of interest with onset by 3 years of age. The results of genetic linkage studied for autistic disorder (AD) have suggested a susceptibility locus for the disease on the long arm of chromosome 7. We report a girl with AD and a balanced reciprocal translocation t(5;7)(q14;q32). The mother carries the translocation but do not express the disease. Fluorescent in situ hybridization (FISH) analysis with chromosome 7-specific YAC clones showed that the breakpoint coincides with the candidate region for AD. We identified a PAC clone that spans the translocation breakpoint and the breakpoint was mapped to a 2 kb region. Mutation screening of the genes SSBP and T2R3 located just centromeric to the breakpoint was performed in a set of 29 unrelated autistic sibling pairs who shared at least one chromosome 7 haplotype. We found no sequence variations, which predict amino acid alterations. Two single nucleotide polymorphisms were identified in the T2R3 gene, and associations between allele variants and AD in our population were not found. The methylation pattern of different chromosome 7 regions in the patient's genomic DNA appears normal. Here we report the clinical presentation of the patient with AD and the characterization of the genomic organization across the breakpoint at 7q32. The precise localization of the breakpoint on 7q32 may be relevant for further linkage studies and molecular analysis of AD in this region.

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