title: A candidate region for Asperger syndrome defined by two 17p breakpoints.
abstract: 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.
authors.affiliation: Department of Genetics and Pathology, Section of Clinical Genetics, The Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.
authors.forename: Dmitry
authors.initials: D
authors.lastname: Tentler
authors.forename: Tonnie
authors.initials: T
authors.lastname: Johannesson
authors.forename: Maria
authors.initials: M
authors.lastname: Johansson
authors.forename: Maria
authors.initials: M
authors.lastname: Råstam
authors.forename: Christopher
authors.initials: C
authors.lastname: Gillberg
authors.forename: Christina
authors.initials: C
authors.lastname: Orsmark
authors.forename: Birgit
authors.initials: B
authors.lastname: Carlsson
authors.forename: Jan
authors.initials: J
authors.lastname: Wahlström
authors.forename: Niklas
authors.initials: N
authors.lastname: Dahl
mesh_terms: D000293:Adolescent; D000328:Adult; D020817:Asperger Syndrome / Q000235:genetics*; D015152:Blotting, Northern; D002648:Child; D002886:Chromosomes, Human, Pair 17; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D020161:Physical Chromosome Mapping; D014178:Translocation, Genetic