title: Rare copy number variants are common in young children with autism spectrum disorder.
abstract: OBJECTIVE
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.|Department of Neuropediatrics, Astrid Lindgren's Children's Hospital, Karolinska University Hospital, Stockholm, Sweden.|Gillberg Neuropsychiatry Centre, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden.
authors: Mats Anders
authors: MA
authors: Eriksson
authors: Department of Molecular Medicine and Surgery and Centre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors: Agne
authors: A
authors: Liedén
authors: Department of Psychology, Stockholm University, Stockholm, Sweden.
authors: Joakim
authors: J
authors: Westerlund
authors: Division of Clinical Genetics, University Hospital, Linköping, Sweden.
authors: Anna
authors: A
authors: Bremer
authors: Department of Molecular Medicine and Surgery and Centre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors: Josephine
authors: J
authors: Wincent
authors: Department of Molecular Medicine and Surgery and Centre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors: Ellika
authors: E
authors: Sahlin
authors: Gillberg Neuropsychiatry Centre, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden.
authors: Christopher
authors: C
authors: Gillberg
authors: Gillberg Neuropsychiatry Centre, Sahlgrenska Academy, Gothenburg University, Gothenburg, Sweden.
authors: Elisabeth
authors: E
authors: Fernell
authors: Department of Molecular Medicine and Surgery and Centre for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.|Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
authors: Britt-Marie
authors: BM
authors: Anderlid
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000523:psychology; D002675:Child, Preschool; D003071:Cognition; D000013:Congenital Abnormalities; D056915:DNA Copy Number Variations; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D065886:Neurodevelopmental Disorders / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis
keywords: Autism; Autism spectrum disorder; Chromosomal microarray; Copy number variants