Hiatt et al., 2018 described a cohort of ten cases with de novo protein-altering variants in the RALA gene presenting with a neurodevelopmental disorder characterized by developmental delay/intellectual disability, delayed or absent speech, hypotonia, inability to walk, facial dysmorphism, short stature, decreased body weight, and abnormal brain MRI; 3/3 individuals in this cohort for whom information was available also presented with ASD. The same de novo missense variant that was observed in all three ASD cases in Hiatt et al., 2018 (c.73G>A;p.Val25Met) was also observed in a Japanese patient diagnosed with autism spectrum disorder and presenting with a Noonan syndrome-like phenotype in Okamoto et al., 2019.
Molecular Function
Multifunctional GTPase involved in a variety of cellular processes including gene expression, cell migration, cell proliferation, oncogenic transformation and membrane trafficking.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
