%0 Journal Article
%T Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
%J -
%D 2018
%R https://doi.org/10.1038/s41439-018-0022-x
%X 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
%U https://www.nature.com/articles/s41439-018-0022-x