Two individuals with missense variants affecting the p.Arg13 residue of KIF1A were shown to have diagnoses of ASD and ADHD in addition to spasticity (Tomaselli et al., 2017; Kurihara et al., 2020). Phenotypic characterization of 117 individuals with KIF1A Associated Neurological Disorder (KAND) in Boyle et al., 2021 determined that autism was observed in 20% (16/80) individuals from whom information was available. A total of three de novo missense variants in KIF1A (one of which was mosaic) have been identified in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (Iossifov et al., 2014; Krupp et al., 2017; Satterstrom et al., 2020).
Molecular Function
The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30, hereditary sensory neuropathy IIC, and NESCAV syndrome.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder