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A single variant, p.Arg535Cys in <jats:italic>CNOT1,<\/jats:italic> has been described in HPE in association with pancreatic agenesis and neonatal diabetes. Here, we report on a case of HPE and p.Arg535Cys in <jats:italic>CNOT1<\/jats:italic> without pancreatic agenesis where the patient presented with diabetes mellitus in adolescence. This case reinforces the role of <jats:italic>CNOT1<\/jats:italic> in pancreatic development. We suggest that individuals with p.Arg535Cys in <jats:italic>CNOT1<\/jats:italic> with no pancreas abnormalities observed at birth should be screened for diabetes during follow\u2010up.<\/jats:p>","DOI":"10.1002\/ajmg.a.63836","type":"journal-article","created":{"date-parts":[[2024,8,16]],"date-time":"2024-08-16T05:19:07Z","timestamp":1723785547000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<scp><i>CNOT1<\/i><\/scp> p.<scp>Arg535Cys<\/scp> variant in holoprosencephaly with late onset diabetes mellitus"],"prefix":"10.1002","volume":"194","author":[{"given":"Amaro Freire","family":"de Queiroz J\u00fanior","sequence":"first","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7404-2911","authenticated-orcid":false,"given":"Maria Teresa 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