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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents

ID: 334809.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
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; Müller, Ines; Hultschig, Claus; Erdogan, Fikret; Wieczorek, Georg; Ropers, Hans-Hilger
Research Context:Funded by:Max Planck Innovation Funds and Deutsche Forschungsgemeinschaft; Grant Number: SFB577
Date of Publication (YYYY-MM-DD):2007-05-04
Title of Journal:Human Mutation : Variation, Databases, and Disease
Journal Abbrev.:Hum. Mutat.
Issue / Number:7
Start Page:674
End Page:682
Copyright:© 2007 Wiley-Liss, Inc.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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
Free Keywords:autism • mental retardation • array CGH • copy number variant
Comment of the Author/Creator:Reinhard Ullmann (ullmann@molgen.mpg.de)
Correspondence to Reinhard Ullmann, Max Planck Institute for Molecular Genetics, Ihnestr.73, 14195 Berlin, Germany
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.GOLD Service, Hunter Genetics, University of Newcastle, New South Wales, Australia;
2.Department of Clinical Genetics, Rigshospitalet, Copenhagen, Denmark;
3.Department of Psychological Medicine, Monash University, Melbourne, Victoria, Australia;
4.Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil;
5.Department of Pediatrics, John Hunter Hospital, Newcastle, New South Wales, Australia.
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