Relevance to Autism

A de novo missense variant in the KIF5C gene that was predicted to be damaging was identified in an autistic proband (Awadalla et al., 2010). Inherited missense variants in this gene that were predicted to be damaging were identified in Chinese ASD probands in Li et al., 2017. Phenotypic characterization of four previously published cases (from de Ligt et al., 2013, Poirier et al., 2013, Januar et al., 2014, and Cavallin et al., 2016) and two novel cases in Michels et al., 2017 implicated KIF5C missense variants as the cause of a neurodevelopmental disorder characterized by infantile-onset epilepsy, absent speech, malformations of cortical development, and, in three cases, stereotypic hand movements.

Molecular Function

Neuron-specific kinesin heavy chain (kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport)

External Links

References