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

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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., Turner, G., Kirchhoff, M., Chen, W., Tonge, B., Rosenberg, C., Field, M., Vianna-Morgante, A.M., Christie, L., Krepischi-Santos, A.C., Banna, L., Brereton, A.V., Hill, A., Bisgaard, A.M., Mueller, I., Hultschig, C., Erdogan, F., 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
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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