MYT1L belongs to the myelin transcription factor 1 (MYT1) family of neural-specific transcription factors, together with MYT1 and suppression of tumorigenicity 18 (ST18). All three members contain a MYT domain and six or seven zinc finger binding motifs in a cys-cys-his-cys pattern.
Whole and partial gene deletions of the MYT1L gene, as well as partial gene duplications and single nucleotide variants have been described.
While deletions and duplications can be identified by genomic microarrays, mutations in MYTL can be identified using targeted or genome-wide sequencing technology. De novo loss-of-function mutations (splice site, nonsense and frameshift mutations) as well as missense mutations have been reported.
Prenatal testing is technically feasible, but the likelihood of recurrence in families who have had an affected child is considered low based upon the current knowledge.