Reinhard Ullmann and Gillian Turner contributed equally to this work.
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation†
Article first published online: 4 MAY 2007
© 2007 Wiley-Liss, Inc.
Volume 28, Issue 7, pages 674–682, July 2007
How to Cite
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., Müller, I., Hultschig, C., Erdogan, F., Wieczorek, G. and Ropers, H. H. (2007), Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation. Hum. Mutat., 28: 674–682. doi: 10.1002/humu.20546
Communicated by Haig Kazazian
- Issue published online: 21 MAY 2007
- Article first published online: 4 MAY 2007
- Manuscript Accepted: 28 MAR 2007
- Manuscript Received: 8 NOV 2006
- Max Planck Innovation Funds
- Deutsche Forschungsgemeinschaft. Grant Number: SFB577
- mental retardation;
- array CGH;
- copy number variant
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. Hum Mutat 28(7), 674–682, 2007. © 2007 Wiley-Liss, Inc.