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

Tentler, Dmitry; Johannesson, Tonnie; Johansson, Maria; Råstam, Maria LU ; Gillberg, Christopher; Orsmark, Christina; Carlsson, Birgit; Wahlström, Jan and Dahl, Niklas (2003) In European Journal of Human Genetics 11. p.189-195
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... (More)
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. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
keywords
balanced translocation, Asperger syndrome, autism, candidate region
in
European Journal of Human Genetics
volume
11
pages
189 - 195
publisher
Nature Publishing Group
external identifiers
  • scopus:0037301216
ISSN
1476-5438
DOI
language
English
LU publication?
no
id
d383ed0f-85a4-49cc-ac2a-76aeb2a06790 (old id 1454799)
date added to LUP
2011-02-21 17:03:37
date last changed
2018-05-29 10:08:19
@article{d383ed0f-85a4-49cc-ac2a-76aeb2a06790,
  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.},
  author       = {Tentler, Dmitry and Johannesson, Tonnie and Johansson, Maria and Råstam, Maria and Gillberg, Christopher and Orsmark, Christina and Carlsson, Birgit and Wahlström, Jan and Dahl, Niklas},
  issn         = {1476-5438},
  keyword      = {balanced translocation,Asperger syndrome,autism,candidate region},
  language     = {eng},
  pages        = {189--195},
  publisher    = {Nature Publishing Group},
  series       = {European Journal of Human Genetics},
  title        = {A candidate region for Asperger syndrome defined by two 17p breakpoints},
  url          = {http://dx.doi.org/},
  volume       = {11},
  year         = {2003},
}