Identification of candidate genes of autism on the basis of molecular cytogenetic and in silico studies of the genome organization of chromosomal regions involved in unbalanced rearrangements

Abstract

Autism is one of the most widely spread mental diseases among children. Different genetic anomalies make a considerable contribution to the etiology of this disease; therefore, the identification of candidate genes of autism can be regarded as a topical task of modern medical genetics. The molecular cytogenetic examination of children with autism was carried out using high-resolution comparative genome hybridization and subsequent in silico analysis of chromosomal regions involved in unbalanced rearrangements. Five of 126 (4%) children with autism had unbalanced rearrangements of chromosomes 5, 17, 21 (deletions) and chromosomes 4 and 22 (duplications). The following candidate genes were identified in children with autism by in silico analysis: SCARB2, TPPP, PDCD6, SEPT5, GP1BB, PI4KA, NPTX1, STCH, NRIP1, and CXADR. These methods also allowed us to find a possible association between gene clusterization and the formation of the described chromosomal rearrangements. Thus, this study demonstrates that the molecular cytogenetic and bioinformatic methods can be successfully used to search for candidate genes of different diseases and analyze the genome organization.