MYT1L

This gene encodes a member of the zinc finger superfamily of transcription factors whose expression, thus far, has been found only in neuronal tissues. The encoded protein belongs to a novel class of cystein-cystein-histidine-cystein zinc finger proteins that function in the developing mammalian central nervous system. Forced expression of this gene in combination with the basic helix-loop-helix transcription factor NeuroD1 and the transcription factors POU class 3 homeobox 2 and achaete-scute family basic helix-loop-helix transcription factor 1 can convert fetal and postnatal human fibroblasts into induced neuronal cells, which are able to generate action potentials. Mutations in this gene have been associated with an autosomal dominant form of cognitive disability and with autism spectrum disorder. Alternative splicing results in multiple variants. [provided by RefSeq, Jul 2017].

MYT1L syndrome is a rare neurodevelopmental disorder caused by mutations or deletions in the MYT1L gene, which encodes a transcription factor involved in brain development. Individuals with MYT1L syndrome often present with a range of features, including variable intellectual disability, extreme emotional dysregulation, autistic behaviors, hypotonia (low muscle tone), epilepsy, developmental delays, insatiable appetite leading to obesity and other behavioral and psychiatric challenges. Approximately 30% of individuals with MYT1L syndrome are not intellectually disabled, but instead have a specific learning disability.^[6]

The syndrome was first recognized through exome sequencing studies and has since been documented in several hundred individuals worldwide. Diagnosis is typically made via genetic testing.

The MYT1L Project Foundation is a parent-led, scientist-supported foundation established in 2025 to advance research into evidence-based interventions for MYT1L Neurodevelopmental Syndrome. The foundation is uniting families impacted by MYT1L syndrome and is working together towards a cure.^[7]