Relevance to Autism

Two de novo loss-of-function (LoF) variants and a de novo missense variant in the TLE3 gene have been identified in ASD probands from the SPARK cohort and the Simons Simplex Collection (Iossifov et al., 2014; Zhou et al., 2022), while an additional two protein-truncating variants in TLE3 were observed in ASD probands, compared to none in controls, from a case-control cohort (Trost et al., 2022). Transmission and de novo association (TADA) analysis of whole-exome and whole-genome sequencing data from the Autism Sequencing Consortium, the Simons Simplex Collection, the MSSNG cohort, and the SPARK cohort in Trost et al., 2022 identified TLE3 as an ASD-associated gene with a false discovery rate (FDR) < 0.1.

Molecular Function

This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. The protein encoded by this gene inhibits the transcriptional activation mediated by CTNNB1 and TCF family members in Wnt signaling.

External Links

References