Variations in MYT1L, a gene encoding a transcription factor expressed in the brain, have been associated with autism, intellectual disability, and schizophrenia. Here we provide an updated review of published reports of neuropsychiatric correlates of loss of function and duplication of MYT1L. Of 27 duplications all were partial; 33% were associated exclusively with schizophrenia, and the chromosomal locations of schizophrenia-associated duplications exhibited a distinct difference in pattern-of-location from those associated with autism and/or intellectual disability. Of 51 published heterozygous loss of function variants, all but one were associated with intellectual disability, autism, or both, and one resulted in no neuropsychiatric diagnosis. There were no reports of schizophrenia associated with loss of function variants of MYT1L (Fisher's exact p < .00001, for contrast with all reported duplications). Although the precise function of the various mutations remains unspecified, these data collectively establish the candidacy of MYT1L as a reciprocal mutation, in which schizophrenia may be engendered by partial duplications, typically involving the 3' end of the gene, while developmental disability-notably autism-is associated with both loss of function and partial duplication. Future research on the specific effects of contrasting mutations in MYT1L may provide insight into the causal origins of autism and schizophrenia.

中文翻译：

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MYT1L：对包括精神分裂症和自闭症在内的遗传变异的系统评价。

MYT1L（一种编码在大脑中表达的转录因子的基因）的变异与自闭症，智力残疾和精神分裂症有关。在这里，我们提供了功能丧失和MYT1L重复的神经精神病学相关报道的更新报告。在27个重复项中，全部都是部分重复。33％仅与精神分裂症相关，并且与自闭症和/或智力残疾相关的重复模式相比，精神分裂症相关的重复染色体位置显示出明显的差异。在发表的51种杂合性功能变异杂合中，除一种外，其余均与智障，自闭症或两者均有关，一种未导致神经精神病学诊断。没有关于精神分裂症与MYT1L（Fisher' 精确的p <.00001，与所有报告的重复项形成对比）。尽管尚不清楚各种突变的确切功能，但这些数据共同确定了MYT1L作为对等突变的候选资格，在这种突变中，精神分裂症可能通过部分重复（通常涉及基因的3'端）而引起，而发育障碍尤其是自闭症-与功能丧失和部分重复有关。未来有关MYT1L突变突变的特异作用的研究可能会提供对自闭症和精神分裂症病因起源的见解。其中精神分裂症可能通过部分重复而引起，通常涉及基因的3'端，而发育障碍（尤其是自闭症）与功能丧失和部分重复有关。未来有关MYT1L突变突变的特异作用的研究可能会提供对自闭症和精神分裂症病因起源的见解。其中精神分裂症可能由部分重复引起，通常涉及基因的3'端，而发育障碍（尤其是自闭症）与功能丧失和部分重复有关。未来有关MYT1L突变突变的特异作用的研究可能会提供对自闭症和精神分裂症病因起源的见解。