De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement

We report eight individuals with rare heterozygous variants in FRMD5 who present with developmental delay, intellectual disability, ataxia and abnormalities of eye movement. Experimental evidence based on Drosophila studies and protein structure predictions indicate that these variants cause loss-of-function as well as dominant-negative effects.

Source: The American Journal of Human Genetics - October 6, 2022 Category: Genetics & Stem Cells Authors: Shenzhao Lu, Mengqi Ma, Xiao Mao, Carlos A. Bacino, Joseph Jankovic, V. Reid Sutton, James A. Bartley, Xueying Wang, Jill A. Rosenfeld, Ana Beleza-Meireles, Jaynee Chauhan, Xueyang Pan, Megan Li, Pengfei Liu, Katrina Prescott, Sam Amin, George Davies, Mic Tags: Report Source Type: research