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...

Descripción completa

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
_version_ 1783348012535250944
author Lee, Tomoko
Misaki, Maiko
Shimomura, Hideki
Tanaka, Yasuhiko
Yoshida, Satoru
Murayama, Kei
Nakamura, Kimitoshi
Fujiki, Ryoji
Ohara, Osamu
Sasai, Hideo
Fukao, Toshiyuki
Takeshima, Yasuhiro
author_facet Lee, Tomoko
Misaki, Maiko
Shimomura, Hideki
Tanaka, Yasuhiko
Yoshida, Satoru
Murayama, Kei
Nakamura, Kimitoshi
Fujiki, Ryoji
Ohara, Osamu
Sasai, Hideo
Fukao, Toshiyuki
Takeshima, Yasuhiro
author_sort Lee, Tomoko
collection PubMed
description 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.
format Online
Article
Text
id pubmed-6095930
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Nature Publishing Group UK
record_format MEDLINE/PubMed
spelling pubmed-60959302018-08-21 Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation Lee, Tomoko Misaki, Maiko Shimomura, Hideki Tanaka, Yasuhiko Yoshida, Satoru Murayama, Kei Nakamura, Kimitoshi Fujiki, Ryoji Ohara, Osamu Sasai, Hideo Fukao, Toshiyuki Takeshima, Yasuhiro Hum Genome Var Data Report 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. Nature Publishing Group UK 2018-08-16 /pmc/articles/PMC6095930/ /pubmed/30131866 http://dx.doi.org/10.1038/s41439-018-0022-x Text en © The Author(s) 2018 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Data Report
Lee, Tomoko
Misaki, Maiko
Shimomura, Hideki
Tanaka, Yasuhiko
Yoshida, Satoru
Murayama, Kei
Nakamura, Kimitoshi
Fujiki, Ryoji
Ohara, Osamu
Sasai, Hideo
Fukao, Toshiyuki
Takeshima, Yasuhiro
Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
title Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
title_full Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
title_fullStr Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
title_full_unstemmed Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
title_short Late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
title_sort late-onset ornithine transcarbamylase deficiency caused by a somatic mosaic mutation
topic Data Report
url 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
work_keys_str_mv AT leetomoko lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT misakimaiko lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT shimomurahideki lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT tanakayasuhiko lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT yoshidasatoru lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT murayamakei lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT nakamurakimitoshi lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT fujikiryoji lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT oharaosamu lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT sasaihideo lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT fukaotoshiyuki lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation
AT takeshimayasuhiro lateonsetornithinetranscarbamylasedeficiencycausedbyasomaticmosaicmutation

Ejemplares similares