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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features
