Epilepsy and Autism spectrum disorder caused by a pathogenic variant in TNRC6B

MicroRNAs (miRNAs) are small non-coding RNAs transcribed from independent miRNA genes that regulate gene expression in normal and pathological cellular processes. The TNRC6B gene (trinucleotide repeat containing 6 B, *610740) encodes a protein required to mediate translational inhibition by miRNA-guided mRNA cleavage [ [1] Meister G. Landthaler M. Peters L. Chen P.Y. Urlaub H. Lührmann R. et al. Identification of novel argonaute-associated proteins. Curr Biol. 2005; 15 (Dec 6Epub 2005 Nov 10. PMID: 16289642): 2149-2155https://doi.org/10.1016/j.cub.2005.10.048 Abstract Full Text Full Text PDF PubMed Scopus (429) Google Scholar ]. This protein is associated with the Argonaute (Ago) family of proteins in the cytoplasm of the RNA-induced silencing complex (RISC), which leads to translational repression or mRNA degradation [ [1] Meister G. Landthaler M. Peters L. Chen P.Y. Urlaub H. Lührmann R. et al. Identification of novel argonaute-associated proteins. Curr Biol. 2005; 15 (Dec 6Epub 2005 Nov 10. PMID: 16289642): 2149-2155https://doi.org/10.1016/j.cub.2005.10.048 Abstract Full Text Full Text PDF PubMed Scopus (429) Google Scholar ].