Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature intellectual disability speech delay

摘要

RAP1GDS1 (RAP1, GTP‐GDP dissociation stimulator 1), also known as SmgGDS, is a guanine nucleotide exchange factor (GEF) that regulates small GTPases, including, RHOA, RAC1, and KRAS. RAP1GDS1 was shown to be highly expressed in different tissue types including the brain. However, mutations in the gene associated with human diseases have not previously been reported.