Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-12

AUTHORS

Tomoko Lee, Maiko Misaki, Hideki Shimomura, Yasuhiko Tanaka, Satoru Yoshida, Kei Murayama, Kimitoshi Nakamura, Ryoji Fujiki, Osamu Ohara, Hideo Sasai, Toshiyuki Fukao, Yasuhiro Takeshima

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. More... »

PAGES

22

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-018-0022-x

DOI

http://dx.doi.org/10.1038/s41439-018-0022-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1106173707

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30131866


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