Pan et al., 2024 reported 14 individuals with de novo heterozygous variants in the FRYL gene, including an ASD proband from the SPARK cohort, presenting with a neurodevelopmental disorder characterized by developmental delay, intellectual disability, behavioral problems (including a diagnosis of autism spectrum disorder in five individuals), dysmorphic facial features, and other congenital anomalies; subsequent modeling of four of the FRYL missense variants found in affected individuals in Drosophila identified three with severe or partial loss-of-function effects. Additional de novo variants in this gene, including a de novo splice-site variant and multiple de novo missense variants, have been identified in ASD probands (De Rubeis et al., 2014; Iossifov et al., 2014; Krumm et al., 2015; Yuen et al., 2017; Satterstrom et al., 2020; Zhou et al., 2022).
Molecular Function
Predicted to be involved in cell morphogenesis and neuron projection development. Predicted to be active in cell cortex and site of polarized growth.
