ARFGEF1 pathogenic variants are responsible for an autosomal dominantly inherited neurodevelopmental disorder, that is characterized by a variable association of developmental delay, intellectual disability, epilepsy, and morphological features.
Its precise prevalence is unknown. To date, less than 20 patients have been reported.
It is secondary to the haploinsufficiency of ARFGEF1, a gene encoding a small GTPase, highly conserved among mammals and eukaryote, which is part of the ADP ribosylation factors guanine nucleotide exchange factors family. These proteins are involved in numerous molecular pathways, including vesicle formation and maintenance of the Golgi apparatus’ structure and function.
ARFGEF1