De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

We report fourteen individuals with de novo variants in FRYL who present with neurodevelopmental features. Nine variants correspond to premature stop codons, frameshifts, or splicing variants. Modeling in Drosophila supports an essential developmental function for the fly FRYL ortholog; genomic integration of three missense variants caused a loss-of-function phenotype.

Source: The American Journal of Human Genetics - March 12, 2024 Category: Genetics & Stem Cells Authors: Xueyang Pan, Alice M. Tao, Shenzhao Lu, Mengqi Ma, Shabab B. Hannan, Rachel Slaugh, Sarah Drewes Williams, Lauren O'Grady, Oguz Kanca, Richard Person, Melissa T. Carter, Konrad Platzer, Franziska Schnabel, Rami Abou Jamra, Amy E. Roberts, Jane W. Newburge Tags: Article Source Type: research