Antonio Gennaro Nicotera, Greta Amore, Maria Concetta Saia, Mirella Vinci, Antonino Musumeci, Valeria Chiavetta, Concetta Federico, Giulia Spoto, Salvatore Saccone, Gabriella Di Rosa, Francesco Calì
Autism spectrum disorder (ASD) is a long-known complex neurodevelopmental disorder, and over the past decades, with the enhancement of the research genomic techniques, has been the object of intensive research activity, and many genes involved in the development and functioning of the central nervous system have been related to ASD genesis. Herein, we report a patient with severe ASD carrying a G > A de novo variant in the FGFR2 gene, determining a missense mutation. FGFR2 encodes for the ubiquitous fibroblast growth factor receptor (FGFR) type 2, a tyrosine kinase receptor implicated in several biological processes...
December 2023: Neuromolecular Medicine