Relevance to Autism

De novo variants in the CTR9 gene have been identified in ASD probands, including a rare and potentially deleterious de novo missense variant in a proband from the Autism Sequencing Consortium (De Rubeis et al., 2014; Sanders et al., 2015; Yuen et al., 2017; Turner et al., 2017). Additional de novo variants in this gene have been identified in probands with intellectual disability in Lelieveld et al., 2016, probands from the 2017 Deciphering Developmental Disorders study, and an NDD proband in Hamanaka et al., 2022. Moreover, Hamanaka et al., 2022 classified CTR9 as a high-confidence candidate gene for neurodevelopmental disorders following gene-based enrichment of de novo deleterious SNVs and CNVs in 41,165 novel and previously reported cases and subsequent prioritization based on its similarity to known NDD genes using a deep learning model. Meuwissen et al., 2022 described the clinical and molcular profiles of 13 probands harboring likely pathogenic CTR9 missense variants who presented with a neurodevelopmental disorder characterized by variable degrees of intellectual disability, hypotonia, joint hyperlaxity, speech delay, coordination problems, tremor, and autism spectrum disorder.

Molecular Function

The protein encoded by this gene is a component of the PAF1 complex, which associates with RNA polymerase II and functions in transcriptional regulation and elongation. This complex also plays a role in the modification of histones.

External Links

References