Relevance to Autism

A de novo splice-site variant in the METTL26 gene (previously known as C16orf13) was identified in an ASD proband from the Simons Simplex Collection (Iossifov et al., 2014), while a paternally-transmitted frameshift variant in this gene was observed in all three affected siblings in a mulitplex family from the iHART cohort (Ruzzo et al., 2019). TADA analysis of de novo and transmitted variants from iHART, the Simons Simplex Collection, the Autism Sequencing Consortium, and the Autism Genome Project in Ruzzo et al., 2019 identified METTL26 as an ASD candidate gene with a false discovery rate (FDR) < 0.1.

Molecular Function

External Links

References