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

Lee Tomoko T   Misaki Maiko M   Shimomura Hideki H   Tanaka Yasuhiko Y   Yoshida Satoru S   Murayama Kei K   Nakamura Kimitoshi K   Fujiki Ryoji R   Ohara Osamu O   Sasai Hideo H   Fukao Toshiyuki T   Takeshima Yasuhiro Y  

Human genome variation 20180816

An 18-month-old boy was diagnosed with late-onset ornithine transcarbamylase deficiency. Genetic analysis revealed a mosaic frameshift mutation (p.Q279fs) in the <i>OTC</i> 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. ...[more]

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