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Chromosome 15 abnormalities and autistic symptomatology: case - control investigations

Chromosome 15 abnormalities and autistic symptomatology: case - control investigations
Chromosome 15 abnormalities and autistic symptomatology: case - control investigations
Introduction: Case reports and uncontrolled studies of small case series have suggested that abnormalities of chromosome 15 that involve the Prader-Willi/Angelman Syndrome critical region (PWACR) are associated with an increased risk for autism spectrum disorders. We have investigated this issue in a large number of individuals with various forms of chromosome 15 abnormality, comparing the frequency of autistic symptomatology in these cases with the frequency in various control samples. Methods: Individuals with duplications (n¼30), supernumery marker chromosome 15’s (n¼32), Prader-Willi Syndrome (disomy cases¼49 deletion cases¼47) were assessed using questionnaire (SCQ), innterview (ADI-R) and observational (ADOS-G) measures of autistic symptomatology and the frequency of symptoms compared to the that found in unaffected relative and Down syndrome controls. Results: Autisitc symptomatalogy was strongly associated with the presence and number of extra copies of the PWACR. Within and between group contrasts suggested that the increased risk for autistic symptomatology was related to over expression of maternally expressed genes. Conclusions: Genes within the Prader-Willi/Angelman syndrome critical region are candidate genes in the aetiology of autism spectrum disorders. Dysregulation of maternally expressed genes is a potential candidate mechanism. However, molecular genetic organisation in this region is complex with methylation and chromatin structure change and epistatic interactions with genes in other regions being possible.
p.S64
Wiley-Liss
Bolton, P.F.
4b075ac5-f047-42ab-9b4c-662afbaaaccd
Rijsdijk, F.
359081bb-6bb1-42d6-8dfc-b066471a5ada
Craig, E.
8a7351ef-b0e2-4226-a409-66c14ec95947
Veltman, M.
565e9ec2-3ec0-467c-a060-c9b9fb1726c7
Thompson, R.
67564738-11f6-4b13-b0f5-48eb4ce12b96
Thomas, S.
0f83004b-179e-4b71-8374-25345d0e9dad
Roberts, S.
fc6a3991-f095-4a92-8501-56faabcfbd90
Curran, S.R.
2e36ab1c-48bf-4554-a4c5-1b150b3d9ac4
DeLisi, Lynn E
DePalma, Gail
Bolton, P.F.
4b075ac5-f047-42ab-9b4c-662afbaaaccd
Rijsdijk, F.
359081bb-6bb1-42d6-8dfc-b066471a5ada
Craig, E.
8a7351ef-b0e2-4226-a409-66c14ec95947
Veltman, M.
565e9ec2-3ec0-467c-a060-c9b9fb1726c7
Thompson, R.
67564738-11f6-4b13-b0f5-48eb4ce12b96
Thomas, S.
0f83004b-179e-4b71-8374-25345d0e9dad
Roberts, S.
fc6a3991-f095-4a92-8501-56faabcfbd90
Curran, S.R.
2e36ab1c-48bf-4554-a4c5-1b150b3d9ac4
DeLisi, Lynn E
DePalma, Gail

Bolton, P.F., Rijsdijk, F., Craig, E., Veltman, M., Thompson, R., Thomas, S., Roberts, S. and Curran, S.R. (2005) Chromosome 15 abnormalities and autistic symptomatology: case - control investigations. DeLisi, Lynn E and DePalma, Gail (eds.) In Abstracts of the XIII World Congress on Psychiatric Genetics 2005. Wiley-Liss. p.S64 . (doi:10.1002/ajmg.b.30233).

Record type: Conference or Workshop Item (Paper)

Abstract

Introduction: Case reports and uncontrolled studies of small case series have suggested that abnormalities of chromosome 15 that involve the Prader-Willi/Angelman Syndrome critical region (PWACR) are associated with an increased risk for autism spectrum disorders. We have investigated this issue in a large number of individuals with various forms of chromosome 15 abnormality, comparing the frequency of autistic symptomatology in these cases with the frequency in various control samples. Methods: Individuals with duplications (n¼30), supernumery marker chromosome 15’s (n¼32), Prader-Willi Syndrome (disomy cases¼49 deletion cases¼47) were assessed using questionnaire (SCQ), innterview (ADI-R) and observational (ADOS-G) measures of autistic symptomatology and the frequency of symptoms compared to the that found in unaffected relative and Down syndrome controls. Results: Autisitc symptomatalogy was strongly associated with the presence and number of extra copies of the PWACR. Within and between group contrasts suggested that the increased risk for autistic symptomatology was related to over expression of maternally expressed genes. Conclusions: Genes within the Prader-Willi/Angelman syndrome critical region are candidate genes in the aetiology of autism spectrum disorders. Dysregulation of maternally expressed genes is a potential candidate mechanism. However, molecular genetic organisation in this region is complex with methylation and chromatin structure change and epistatic interactions with genes in other regions being possible.

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More information

Published date: 5 September 2005
Additional Information: Published in: American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 138B, Issue 1
Venue - Dates: XIII World Congress on Psychiatric Genetics 2005, 2005-09-05
Organisations: Medicine

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Local EPrints ID: 60494
URI: https://eprints.soton.ac.uk/id/eprint/60494
PURE UUID: 31d3e158-cab5-4271-910b-fe3c6cb95788

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Date deposited: 17 Mar 2009
Last modified: 13 Mar 2019 20:29

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Contributors

Author: P.F. Bolton
Author: F. Rijsdijk
Author: E. Craig
Author: M. Veltman
Author: R. Thompson
Author: S. Thomas
Author: S. Roberts
Author: S.R. Curran
Editor: Lynn E DeLisi
Editor: Gail DePalma

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