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Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation.


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.

SUBMITTER: Lee T 

PROVIDER: S-EPMC6095930 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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