Rare copy number variants are common in young children with autism spectrum disorder

Eriksson, M. A., Liedén, A., Westerlund, J., Bremer, A., Wincent, J., Sahlin, E., Gillberg, C. , Fernell, E. and Anderlid, B.-M. (2015) Rare copy number variants are common in young children with autism spectrum disorder. Acta Paediatrica, 104(6), pp. 610-618. (doi: 10.1111/apa.12969) (PMID:25661985)

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Abstract

Aim: Several studies have suggested that rare copy number variants (CNVs) are an important genetic contributor to autism spectrum disorders. The aims of the study were to use chromosomal microarray to investigate the presence of rare copy number variants in a population‐based cohort of well‐characterised young children with autism spectrum disorders and to relate the genetic results to neurodevelopmental profiles and medical conditions. Methods: We performed chromosomal microarray on samples from 162 children who had been referred to the Stockholm Autism Centre for Young Children in Sweden after being diagnosed with autism spectrum disorder between 20 and 54 months of age. Results: Pathogenic aberrations were detected in 8.6% of the children and variants of uncertain significance were present in another 8.6%. CNVs were more frequent in children with congenital malformations or dysmorphic features as well as in the subgroup with intellectual disability. Conclusion: Our results support the use of chromosomal microarray methods for the first tier genetic analysis of autism spectrum disorder. However, it is likely in the near future that chromosomal microarray methods will probably be replaced by whole‐exome and whole‐genome sequencing technologies in clinical genetic testing.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Gillberg, Professor Christopher
Authors: Eriksson, M. A., Liedén, A., Westerlund, J., Bremer, A., Wincent, J., Sahlin, E., Gillberg, C., Fernell, E., and Anderlid, B.-M.
College/School:College of Medical Veterinary and Life Sciences > Institute of Health and Wellbeing > Mental Health and Wellbeing
Journal Name:Acta Paediatrica
Publisher:Wiley
ISSN:0803-5253
ISSN (Online):1651-2227
Published Online:06 March 2015

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