MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene

MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. It is caused by a gain-of-function variant in the SAMD9 gene, but there is limited knowledge regarding the genotype–phenotype...

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Autores principales: Onuma, Shinsuke, Wada, Tamaki, Araki, Ryosuke, Wada, Kazuko, Tanase-Nakao, Kanako, Narumi, Satoshi, Fukui, Miho, Shoji, Yasuko, Etani, Yuri, Ida, Shinobu, Kawai, Masanobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057985/
https://www.ncbi.nlm.nih.gov/pubmed/32194975
http://dx.doi.org/10.1038/s41439-020-0091-5
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author Onuma, Shinsuke
Wada, Tamaki
Araki, Ryosuke
Wada, Kazuko
Tanase-Nakao, Kanako
Narumi, Satoshi
Fukui, Miho
Shoji, Yasuko
Etani, Yuri
Ida, Shinobu
Kawai, Masanobu
author_facet Onuma, Shinsuke
Wada, Tamaki
Araki, Ryosuke
Wada, Kazuko
Tanase-Nakao, Kanako
Narumi, Satoshi
Fukui, Miho
Shoji, Yasuko
Etani, Yuri
Ida, Shinobu
Kawai, Masanobu
author_sort Onuma, Shinsuke
collection PubMed
description MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. It is caused by a gain-of-function variant in the SAMD9 gene, but there is limited knowledge regarding the genotype–phenotype correlation. We herein report a Japanese patient with MIRAGE syndrome carrying a novel de novo heterozygous missense variant in the SAMD9 gene (c.4435 G > T; p.Ala1479Ser).
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spelling pubmed-70579852020-03-19 MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene Onuma, Shinsuke Wada, Tamaki Araki, Ryosuke Wada, Kazuko Tanase-Nakao, Kanako Narumi, Satoshi Fukui, Miho Shoji, Yasuko Etani, Yuri Ida, Shinobu Kawai, Masanobu Hum Genome Var Data Report MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. It is caused by a gain-of-function variant in the SAMD9 gene, but there is limited knowledge regarding the genotype–phenotype correlation. We herein report a Japanese patient with MIRAGE syndrome carrying a novel de novo heterozygous missense variant in the SAMD9 gene (c.4435 G > T; p.Ala1479Ser). Nature Publishing Group UK 2020-03-05 /pmc/articles/PMC7057985/ /pubmed/32194975 http://dx.doi.org/10.1038/s41439-020-0091-5 Text en © The Author(s) 2020 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
Onuma, Shinsuke
Wada, Tamaki
Araki, Ryosuke
Wada, Kazuko
Tanase-Nakao, Kanako
Narumi, Satoshi
Fukui, Miho
Shoji, Yasuko
Etani, Yuri
Ida, Shinobu
Kawai, Masanobu
MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
title MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
title_full MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
title_fullStr MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
title_full_unstemmed MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
title_short MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene
title_sort mirage syndrome caused by a novel missense variant (p.ala1479ser) in the samd9 gene
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057985/
https://www.ncbi.nlm.nih.gov/pubmed/32194975
http://dx.doi.org/10.1038/s41439-020-0091-5
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