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Rare copy number variants are common in young children with autism spectrum disorder
Karolinska Institute, Sweden; Karolinska University Hospital, Sweden; Gothenburg University, Sweden.
Karolinska Institute, Sweden; Karolinska Institute, Sweden; Karolinska University Hospital, Sweden.
Stockholm University, Sweden.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics. Division of Clinical Genetics, University Hospital, Link.
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2015 (English)In: Acta Paediatrica, ISSN 0803-5253, E-ISSN 1651-2227, Vol. 104, no 6, 610-618 p.Article in journal (Refereed) Published
Abstract [en]

AimSeveral 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. MethodsWe 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 54months of age. ResultsPathogenic 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. ConclusionOur 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.

Place, publisher, year, edition, pages
Wiley , 2015. Vol. 104, no 6, 610-618 p.
Keyword [en]
Autism; Autism spectrum disorder; Chromosomal microarray; Copy number variants
National Category
Psychiatry
Identifiers
URN: urn:nbn:se:liu:diva-119232DOI: 10.1111/apa.12969ISI: 000354528100021PubMedID: 25661985OAI: oai:DiVA.org:liu-119232DiVA: diva2:821285
Note

Funding Agencies|Swedish Research Council; Stockholm City Council; Frimurare Barnhuset Foundation; Linnea and Josef Carlsson Foundation; Kronprinsessan Lovisas Foundation; Sunnerdahls Foundation; Samariten Foundation; Karolinska Institutet Center of Neurodevelopmental Disorders; Gillberg Neuropsychiatry Centre, Sahlgrenska Academy, University of Gothenburg

Available from: 2015-06-15 Created: 2015-06-12 Last updated: 2015-07-02

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Bremer, Anna
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Division of Cell BiologyFaculty of Medicine and Health SciencesDepartment of Clinical Pathology and Clinical Genetics
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