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We describe a family where exome sequencing of a 3\u2010year\u2010old boy with clinical features of Cockayne syndrome (CS) confirmed the diagnosis of CS. He also had a mutation consistent with a pre\u2010symptomatic second disease, multiple endocrine neoplasia type 1 (MEN1), each potentially affecting multiple organ systems, in addition to a poorly defined variant in fumarate hydratase (FH). Genomic sequencing may reveal coexisting pathogenic mutations and variants which complicate clinical interpretation.<\/jats:p>","DOI":"10.1111\/pde.14655","type":"journal-article","created":{"date-parts":[[2021,6,9]],"date-time":"2021-06-09T02:41:13Z","timestamp":1623206473000},"page":"913-918","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape"],"prefix":"10.1111","volume":"38","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5659-2864","authenticated-orcid":false,"given":"Sandra R.","family":"Oska","sequence":"first","affiliation":[{"name":"Laboratory of Cancer Biology and Genetics Center for Cancer Research National Cancer Institute, National Institutes of Health  Bethesda MD 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