{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T07:52:57Z","timestamp":1792223577459,"version":"4.4.0"},"reference-count":43,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,4,8]],"date-time":"2020-04-08T00:00:00Z","timestamp":1586304000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["U54HD087011"],"award-info":[{"award-number":["U54HD087011"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000850","name":"National Heart and Lung Institute","doi-asserted-by":"publisher","award":["K12HL120002"],"award-info":[{"award-number":["K12HL120002"]}],"id":[{"id":"10.13039\/501100000850","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["K08HG010154"],"award-info":[{"award-number":["K08HG010154"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt B"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Variations in <jats:italic>MYT1L<\/jats:italic>, 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 <jats:italic>MYT1L<\/jats:italic>. Of 27 duplications all were partial; 33% were associated exclusively with schizophrenia, and the chromosomal locations of schizophrenia\u2010associated duplications exhibited a distinct difference in pattern\u2010of\u2010location 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 <jats:italic>MYT1L<\/jats:italic> (Fisher's exact <jats:italic>p<\/jats:italic>\u2009&lt;\u2009.00001, for contrast with all reported duplications). Although the precise function of the various mutations remains unspecified, these data collectively establish the candidacy of <jats:italic>MYT1L<\/jats:italic> as a reciprocal mutation, in which schizophrenia may be engendered by partial duplications, typically involving the 3\u2032 end of the gene, while developmental disability\u2014notably autism\u2014is associated with both loss of function and partial duplication. Future research on the specific effects of contrasting mutations in <jats:italic>MYT1L<\/jats:italic> may provide insight into the causal origins of autism and schizophrenia.<\/jats:p>","DOI":"10.1002\/ajmg.b.32781","type":"journal-article","created":{"date-parts":[[2020,4,8]],"date-time":"2020-04-08T11:51:15Z","timestamp":1586346675000},"page":"227-233","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["<scp><i>MYT1L<\/i><\/scp>: A systematic review of genetic variation encompassing schizophrenia and autism"],"prefix":"10.1002","volume":"183","author":[{"given":"Patricia","family":"Mansfield","sequence":"first","affiliation":[{"name":"Saint Louis University  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8888-4186","authenticated-orcid":false,"given":"John N.","family":"Constantino","sequence":"additional","affiliation":[{"name":"Department of Psychiatry Washington University School of Medicine  Saint Louis Missouri USA"},{"name":"Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dustin","family":"Baldridge","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Washington University School of Medicine  Saint Louis Missouri USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006957"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-7-53"},{"key":"e_1_2_8_4_1","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1097\/DBP.0000000000000528","article-title":"Disruptive behavior, global developmental delay, and obesity in a 5\u2010year\u2010old boy with a chromosome microduplication","volume":"39","author":"Braddock A.","year":"2018","journal-title":"Journal of Developmental and Behavioral Pediatrics"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2014.05.020"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3092"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.909"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0906080106"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-018-0363-7"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.124"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13772"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22587"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.189"},{"key":"e_1_2_8_14_1","first-page":"671453","article-title":"Predicting functional effects of missense variants in voltage\u2010gated sodium and calcium channels","author":"Heyne H. 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