Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
paper
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- Authors
- Ullmann, Reinhard; Turner, Gillian; Kirchhoff, Maria; Chen, Wei; Tonge, Bruce; Rosenberg, Carla; Field, Michael; Vianna-Morgante, Angela M; Christie, Louise; Krepischi-Santos, Ana C; Banna, Lynn; Brereton, Avril V; Hill, Alyssa; Bisgaard, Anne-Marie; MΓΌller, Ines; Hultschig, Claus; Erdogan, Fikret; Wieczorek, Georg; Ropers, H Hilger
- Year
- 2007
- Journal
- Human mutation
- PMID
- 17480035
- DOI
- 10.1002/humu.20546
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.
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