Relevance to Autism

JMJD1C was originally hypothesized to be involved in autism based on a single case in which a patient with autism was found to have a de novo inversion which disrupted the JMJD1C gene (Castermans et al., 2007). A de novo double missense variant in JMJD1C was subquently identified in an ASD proband in Neale et al., 2012, and three additional missense variants in this gene were identified in ASD cases in Sez et al., 2016. De novo missense variants in JMJD1C were also identified in a patient with intellectual disability and a patient with Rett syndrome in Sez et al., 2016. Slavotinek et al., 2020 reported seven individuals with de novo JMJD1C variants; two of these individuals diangosed with ASD.

Molecular Function

histone demethylase, tumor suppressor

External Links

References