Relevance to Autism

Three de novo missense variants in the CLASP1 gene had previously been identified in ASD probands (one proband from the Autism Sequencing Consortium in De Rubeis et al., 2014, and two others from the Simons Simplex Collection in Iossifov et al., 2014). A fourth de novo missense variant in this gene was identified by whole genome sequencing in an ASD proband as part of the MSSNG initiative in Yuen et al., 2017. Based on the discovery of four de novo missense variants in ASD cases, a z-score > 2.0 for missense mutations, and a higher-than expected mutation rate (a false discovery rate < 15%), CLASP1 was determined to be an ASD candidate gene in Yuen et al., 2017.

Molecular Function

CLASPs, such as CLASP1, are nonmotor microtubule-associated proteins that interact with CLIPs. CLASP1 is involved in the regulation of microtubule dynamics at the kinetochore and throughout the spindle.

External Links

References