Ontology highlight
ABSTRACT:
SUBMITTER: Lee T
PROVIDER: S-EPMC6095930 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
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]