title: Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
abstract: Autism and mental retardation (MR) are often associated, suggesting that these conditions are etiologically related. Recently, array-based comparative genomic hybridization (array CGH) has identified submicroscopic deletions and duplications as a common cause of MR, prompting us to search for such genomic imbalances in autism. Here we describe a 1.5-Mb duplication on chromosome 16p13.1 that was found by high-resolution array CGH in four severe autistic male patients from three unrelated families. The same duplication was identified in several variably affected and unaffected relatives. A deletion of the same interval was detected in three unrelated patients with MR and other clinical abnormalities. In one patient we revealed a further rearrangement of the 16p13 imbalance that was not present in his unaffected mother. Duplications and deletions of this 1.5-Mb interval have not been described as copy number variants in the Database of Genomic Variants and have not been identified in >600 individuals from other cohorts examined by high-resolution array CGH in our laboratory. Thus we conclude that these aberrations represent recurrent genomic imbalances which predispose to autism and/or MR.
authors.affiliation: Max Planck Institute for Molecular Genetics, Berlin, Germany. ullmann@molgen.mpg.de
authors.forename: Reinhard
authors.initials: R
authors.lastname: Ullmann
authors.forename: Gillian
authors.initials: G
authors.lastname: Turner
authors.forename: Maria
authors.initials: M
authors.lastname: Kirchhoff
authors.forename: Wei
authors.initials: W
authors.lastname: Chen
authors.forename: Bruce
authors.initials: B
authors.lastname: Tonge
authors.forename: Carla
authors.initials: C
authors.lastname: Rosenberg
authors.forename: Michael
authors.initials: M
authors.lastname: Field
authors.forename: Angela M
authors.initials: AM
authors.lastname: Vianna-Morgante
authors.forename: Louise
authors.initials: L
authors.lastname: Christie
authors.forename: Ana C
authors.initials: AC
authors.lastname: Krepischi-Santos
authors.forename: Lynn
authors.initials: L
authors.lastname: Banna
authors.forename: Avril V
authors.initials: AV
authors.lastname: Brereton
authors.forename: Alyssa
authors.initials: A
authors.lastname: Hill
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Bisgaard
authors.forename: Ines
authors.initials: I
authors.lastname: Müller
authors.forename: Claus
authors.initials: C
authors.lastname: Hultschig
authors.forename: Fikret
authors.initials: F
authors.lastname: Erdogan
authors.forename: Georg
authors.initials: G
authors.lastname: Wieczorek
authors.forename: H Hilger
authors.initials: HH
authors.lastname: Ropers
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002885:Chromosomes, Human, Pair 16; D015331:Cohort Studies; D005260:Female; D020440:Gene Duplication; D020022:Genetic Predisposition to Disease; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009693:Nucleic Acid Hybridization / Q000379:methods*; D010375:Pedigree; D016133:Polymerase Chain Reaction