Relevance to Autism

Two de novo loss-of-function (LoF) variants and a de novo missense variant in the RUNX1T1 gene have been identified in ASD probands from the Autism Sequencing Consortium, the SPARK cohort, and the Simons Simplex Collection (Satterstrom et al., 2020; Zhou 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 RUNX1T1 as an ASD-associated gene with a false discovery rate (FDR) < 0.1. More recently, Aref-Eshghi et al., 2024 provided detailed clinical and molecular information on three individuals exhibiting neurodevelopmental and congenital anomalies with germline de novo variants in the RUNX1T1 gene; common features included craniofacial dysmorphism and neurodevelopmental issues such as developmental delay, learning disability, attention deficit hyperactivity disorder, and autism.

Molecular Function

Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes.

External Links

References