Novel MYT1L gene mutation and cerebral palsy: A case report

Over the last decade, a body of genes that may underlie cerebral palsy causation has been elaborated. The objective of this case report is to highlight the possible implication of a loss-of-function pathogenic variant in myelin transcription factor-1 like (MYT1L) gene, not associated with cerebral palsy in prior literature, in the development of cerebral palsy. Our patient is a 22-month-old female referred for specialty evaluation of developmental delay who was subsequently diagnosed with spastic quadriplegic cerebral palsy. Normal magnetic resonance imaging and the finding of microcephaly prompted genetic analysis, which revealed a MYT1L pathogenic variant. Based on the critical function of MYT1L in brain development and based on the reported phenotypes associated with MYT1L, we conclude that a MYT1L pathogenic variant could contribute to the development of cerebral palsy. We therefore recommend that in cases of cerebral palsy where no acquired causes are identified and where, despite neurological findings beyond cerebral palsy (i.e., microcephaly), magnetic resonance imaging is normal, a genetic etiology should be suspected. In these cases, genetic testing should include testing specifically for the MYT1L gene as well as the other genes known to be associated with cerebral palsy.