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A candidate region for Asperger syndrome defined by two 17p breakpoints

Journal article
Authors Dmitry Tentler
Tonnie Johannesson
Maria E I Johansson
Maria Råstam
Christopher Gillberg
Christina Orsmark
Carlsson Birgit
Jan Wahlström
Dahl Niklas
Published in European Journal of Human Genetics
Volume 11
Issue 2
Pages 189-195
ISSN 1018-4813
Publication year 2003
Published at Department of Cell and Molecular Biology, Genetics
Institute for the Health of Women and Children, Dept of Child and Adolescent Psychiatry
Pages 189-195
Language en
Keywords Adolescent, Adult, Asperger Syndrome, Genetics, Blotting, Northern, Child, Chromosomes, Human, Pair 17, Humans, In Situ Hybridization,, Fluorescence, Infant, Male, Physical Chromosome Mapping, Translocation, Genetic
Subject categories Medical and Health Sciences, Psychiatry


Asperger syndrome (AS) is a mild form of autistic disorder characterised by impairment in social interaction as well as a restricted pattern of behaviour, interests, and activities. Two patients with AS and balanced translocations t(13;17) and t(17;19), respectively, were identified. Fluorescent in situ hybridisation (FISH) analysis with chromosome 17 specific clones to metaphase chromosomes from both patients showed that the chromosome 17 breakpoints are located within a 300 kb region at 17p13. The region spans 14 known genes. The expression of these genes was analysed in lymphoblastoid RNA derived from the patients and healthy control individuals. The CHRNE, DKFZP566H073, LOC90048, PFN1, SPAG7, KIAA0909, ZNF232 and KIF1C genes showed similar levels of expression in cell lines with the translocations when compared with cell lines with normal karyotype. No expression was detected for the MINK, GP1BA, SLC25A11, ENO3, FLJ10060 and USP6 genes in any of the cell lines. The close physical relation of the two 17p breakpoints suggest a common genetic aetiology for the phenotype in the patients. Structural and functional analysis of the genes located around the two 17p breakpoints in t(13;17) and t(17;19) patients may reveal candidate sequences for the AS phenotype.

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