MYT1L: A systematic review of genetic variation encompassing schizophrenia and autism.

ABSTRACT: 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 asso

SUBMITTER: Mansfield P 

PROVIDER: S-EPMC7605444 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature