Fibroblast growth factor receptor 2 (FGFR2), a new gene involved in the genesis of Autism Spectrum Disorder

Abstract

Abstract Autism Spectrum Disorder (ASD) is a long known complex neurodevelopmental disorder, and over the past decades, with the enhancing of the research genomic techniques, has been the object of intensive research activity. This has aimed to unravel the potential causative factors underpinning its clinical and etiological heterogeneity and allowing our better understanding of the genetic causes of the disease and to find common genetic risk variants. Today, many genes involved in the development and functioning of the central nervous system have been related to ASD genesis. Herein, we report a 12-year-old Sicilian male diagnosed with severe ASD carrying a novel G>A de novo variant in the FGFR2 gene (NM_000141.5:c.412G>A) at the 138th codon (NP_000132.3:p.Asp138Asn). FGFR2 encodes for the ubiquitous fibroblast growth factor receptor (FGFR) type 2, a tyrosine kinase receptor implicated in several biological processes. The mutated version of this protein is known to be responsible for several variable overlapping syndromes. Even if there still is only sparse and anecdotal data, recent research highlighted a potential role of FGFR2 on neurodevelopment, and our finding provides new insights into the potential causative role of FGFR2 in complex neurodevelopmental disorders, and we propose FGFR2 as a new potential ASD-related gene.