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Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape.

Sandra R OskaDeborah TamuraJenny E BlauSikandar G KhanKenneth H KraemerJohn J DiGiovanna
Published in: Pediatric dermatology (2021)
The availability of genomic sequencing for inherited diseases provides a more complete molecular basis for how an individual's genetic landscape influences clinical outcome. We describe a family where exome sequencing of a 3-year-old boy with clinical features of Cockayne syndrome (CS) confirmed the diagnosis of CS. He also had a mutation consistent with a pre-symptomatic 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.
Keyphrases
  • copy number
  • single cell
  • genome wide
  • dna methylation
  • case report
  • middle aged
  • gene expression