title: Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?
abstract: BACKGROUND
  Copy number variations play a significant role in the aetiology of developmental disabilities including non-syndromic intellectual disability and autism.
  
  
  METHODS
  We describe a 19-year old patient with intellectual disability and autism for whom chromosomal microarray (CMA) analysis showed the unusual finding of twode novomicrodeletions in cis position on chromosome 6q16.1q16.2 and 6q16.3. The two deletions span 10 genes, includingFBXL4, POU3F2, PRDM13, CCNC, COQ3andGRIK2. We compared phenotypes of patients with similar deletions and looked at the involvement of the genes in neuronal networks in order to determine the pathogenicity of our patient's deletions.
  
  
  CONCLUSIONS
  We suggest that both deletions on 6q are causing his disease phenotype since they harbour several genes which are implicated in pathways of neuronal development and function. Further studies regarding the interaction betweenPRDM13andGRIK2specifically may be interesting.
authors.affiliation: Medical Genetics, University Hospital Basel, Schönbeinstrasse 40, CH-4031 Basel, Switzerland.
authors.forename: Daniela
authors.identifier: 0000-0002-4813-7140
authors.initials: D
authors.lastname: Strunk
authors.affiliation: Division of Neuropediatrics and Developmental Pediatrics, University Children's Hospital, Spitalstrasse 33, CH-4056 Basel, Switzerland.
authors.forename: Peter
authors.initials: P
authors.lastname: Weber
authors.affiliation: Medical Genetics, Department of Laboratory Medicine, Cantonal Hospital Aarau, Tellstrasse, CH-5001 Aarau, Switzerland.
authors.forename: Benno
authors.initials: B
authors.lastname: Röthlisberger
authors.affiliation: Medical Genetics, University Hospital Basel and University of Basel, Schönbeinstrasse 40, CH-4031 Basel, Switzerland.
authors.forename: Isabel
authors.initials: I
authors.lastname: Filges
keywords: 6q16 deletion; Autism; GRIK2; Intellectual disability; PRDM13