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

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...

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Detalles Bibliográficos
Autores principales: Lee, Tomoko, Misaki, Maiko, Shimomura, Hideki, Tanaka, Yasuhiko, Yoshida, Satoru, Murayama, Kei, Nakamura, Kimitoshi, Fujiki, Ryoji, Ohara, Osamu, Sasai, Hideo, Fukao, Toshiyuki, Takeshima, Yasuhiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6095930/
https://www.ncbi.nlm.nih.gov/pubmed/30131866
http://dx.doi.org/10.1038/s41439-018-0022-x
Descripción
Sumario: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.

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