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Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape
Author(s) -
Oska Sandra R.,
Tamura Deborah,
Blau Jenny E.,
Khan Sikandar G.,
Kraemer Kenneth H.,
DiGiovanna John J.
Publication year - 2021
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14655
Subject(s) - exome sequencing , men1 , exome , cockayne syndrome , genetics , medicine , dna sequencing , mutation , biology , bioinformatics , multiple endocrine neoplasia , gene , dna repair , nucleotide excision repair
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.