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Background and Aims

Autism spectrum disorders (ASDs) are a group of severe and complex neurodevelopmental disorders. The advances of genome-wide technologies, such as chromosomal microarray and next generation sequencing, allowed the discovery or new microdeletion and microduplication syndromes. We report on nine patients with rare chromosomal deletions and ASD as part of complex phenotypes.

Methods

The probands belong to a group of patients referred to our clinic and laboratory with ASD as main feature. A complete clinical evaluation was performed with focus on neurologic, psychiatric, and psychological evaluation with specific autism tests (ADOS, ADI-R). Array-based comparative genomic hybridization (array-CGH) was performed using 180K platform (Agilent Technologies).

Results

The analysis of 200 genomic profiles detected pathogenic or likely pathogenic deletions in nine patients. Both syndromic/recurrent and rarely reported regions were affected by deletions: 2q23.1, 2q24.3, 3q12.3q13.33, 6q12, 11q23.3q24.1, 11q24.1q24.3, 15q13.1q13.3, 15q21.2q22.2 and 15q24.1q24.2. The deletions ranged from ~27 Kb to 16,9 Mb, with a median of 3.3 Mb. All this patients presented complex phenotypes, including developmental delay / intellectual disability, dysmorphic features, neurological problems.

Conclusions

Our data illustrates the utility of array-CGH in the investigation of patients with autism, specifically in the context of complex phenotypes. Accurate molecular definition of breakpoints and gene content facilitates the understanding of chromosomal mechanisms of occurrence and may contribute to the identification of potential therapeutic targets.

Funding: The research leading to these results has received funding from the EEA Grant 2014-2021, under the project contract No 6/2019.