RAB1A haploinsufficiency phenocopies the 2p14 –p15 microdeletion and is associated with impaired neuronal differentiation

We identify a dominant RAB1A-related neurocognitive disorder with speech and motor delay caused by loss-of-function and dominant-negative mutations in RAB1A. We demonstrate an essential role for RAB1A in neuronal arborization and implicate RAB1A haploinsufficiency in the pathogenesis of neurocognitive manifestations associated with the 2p14 –p15 microdeletion syndrome.

Source: The American Journal of Human Genetics - November 3, 2023 Category: Genetics & Stem Cells Authors: Jonathan J. Rios, Yang Li, Nandina Paria, Ryan J. Bohlender, Chad Huff, Jill A. Rosenfeld, Pengfei Liu, Weimin Bi, Kentaro Haga, Mitsunori Fukuda, Shayal Vashisth, Kiran Kaur, Maria H. Chahrour, Michael B. Bober, Angela L. Duker, Farah A. Ladha, Neil A. H Tags: Report Source Type: research