Article
Two commonly reported incidental variants in OTC are associated with late-onset disease.
HGG advances - 15 Jan 2026
Lang Steven H, Lo Russell S, Cromie Gareth A, Dudley Aimée M, Mew Nicholas Ah, Simpson Kara, Sutton Vernon Reid, Darilek Sandra, Ali Saima, Snyder Matthew T, Lee Brendan, Marom Ronit, Nagamani Sandesh C S, Burrage Lindsay C
Abstract excerpt
Asymptomatic individuals with pathogenic variants in OTC, the gene encoding ornithine transcarbamylase are increasingly being identified through cascade testing, carrier screening, or as secondary findings from genome-wide sequencing tests. However, guidance for counseling and management of such individuals is currently lacking. We selected two common OTC variants for phenotypic and functional characterization:...
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