16p13 aberrations predispose to autism and MR. Homo sapiens

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. This prompted us to search for such genomic imbalances in autism and related disorders. Here we describe a 1.5 Mb duplication on chromosome 16p13.1, found in four autistic male patients from three families and several variably affected and unaffected relatives. A deletion of the same interval was identified in three unrelated patients with MR and other clinical abnormalities. Duplications and deletions of this interval have not been described before, neither as copy number variants in the Database of Genomic Variants nor in >600 individuals from other cohorts examined by high resolution array CGH in our laboratory. Thus, this is the first description of a recurrent genomic imbalance predisposing to autism and/or MR. Keywords: array CGH Overall design: In this study, we have analysed six index patients and some of their relatives by submegabase resolution array CGH. Experiments were done without dye swap.