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Updated: Feb 6, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
Published on: August 23, 2024
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
Tomoko Lee1, Maiko Misaki1, Hideki Shimomura1
11Department of Pediatrics, Hyogo College of Medicine, Nishinomiya, Japan.
Abstract:
An 18-month-old boy was diagnosed with late-onset ornithine transcarbamylase deficiency. Genetic analysis revealed a mosaic frameshift mutation (p.Q279fs) in the OTC gene. Despite the presence of a null mutation, he exhibited a milder phenotype, suggesting that the wild-type allele could rescue the function of OTC. The presence of mosaicism has great effects on the clinical phenotype and recurrence-risk assessment, which should be taken into consideration for genetic counseling.
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