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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

Item Type:Article
Title:Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
Creators Name:Ullmann, R. and Turner, G. and Kirchhoff, M. and Chen, W. and Tonge, B. and Rosenberg, C. and Field, M. and Vianna-Morgante, A.M. and Christie, L. and Krepischi-Santos, A.C. and Banna, L. and Brereton, A.V. and Hill, A. and Bisgaard, A.M. and Mueller, I. and Hultschig, C. and Erdogan, F. and Wieczorek, G. and Ropers, H.H.
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.
Keywords:Autism, Mental Retardation, Array CGH, Copy Number Variant
Source:Human Mutation
ISSN:1059-7794
Publisher:Wiley (U.K.)
Volume:28
Number:7
Page Range:674-682
Date:July 2007
Official Publication:https://doi.org/10.1002/humu.20546
PubMed:View item in PubMed

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