Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation - PubMed (original) (raw)

Gillian Turner, Maria Kirchhoff, Wei Chen, Bruce Tonge, Carla Rosenberg, Michael Field, Angela M Vianna-Morgante, Louise Christie, Ana C Krepischi-Santos, Lynn Banna, Avril V Brereton, Alyssa Hill, Anne-Marie Bisgaard, Ines Müller, Claus Hultschig, Fikret Erdogan, Georg Wieczorek, H Hilger Ropers

Affiliations

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

Reinhard Ullmann et al. Hum Mutat. 2007 Jul.

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.

(c) 2007 Wiley-Liss, Inc.

PubMed Disclaimer

Similar articles

Cited by

Publication types

MeSH terms

LinkOut - more resources