NeuroArray: a customized Comparative Genomic Hybridization array for the analysis of Copy Number Variations in neurological disorders

Neurological disorders are a highly heterogeneous group of pathological conditions characterized by multifactorial etiology involving several environmental and/or genetic factors. The complex nature of this polygenic group of diseases makes challenging the investigation of their pathogenetic basis by means of traditional methodological approaches, which are increasingly replaced by high-throughput genotyping technologies. Among these, microarray-based comparative genomic hybridization (aCGH) is currently recognized as a powerful molecular tool to explore the pathogenetic role of structural unbalanced rearrangements, also in a diagnostic setting. Here, we report the design strategy, development, validation, and implementation of an exon-centric customized aCGH, tailored to detect single/multi-exon deletions and duplications in a large panel of multi- and mono-genic neurological disorders. This targeted design allows a focused evaluation of structural imbalances in clinically relevant genes at exon-level resolution, and will help to refine in the next years potential overlapping gene signatures among neurological conditions.