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