The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms

We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered to have familial dysautonomia (FD)-like disease...

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Autores principales: Kawashima-Sonoyama, Yuki, Okuno, Keisuke, Dohmoto, Tomotsune, Tanase-Nakao, Kanako, Narumi, Satoshi, Namba, Noriyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275606/
https://www.ncbi.nlm.nih.gov/pubmed/34253717
http://dx.doi.org/10.1038/s41439-021-00158-6
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author Kawashima-Sonoyama, Yuki
Okuno, Keisuke
Dohmoto, Tomotsune
Tanase-Nakao, Kanako
Narumi, Satoshi
Namba, Noriyuki
author_facet Kawashima-Sonoyama, Yuki
Okuno, Keisuke
Dohmoto, Tomotsune
Tanase-Nakao, Kanako
Narumi, Satoshi
Namba, Noriyuki
author_sort Kawashima-Sonoyama, Yuki
collection PubMed
description We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered to have familial dysautonomia (FD)-like disease due to increased levels of catecholamine metabolites. Functional analyses of F437S-SAMD9 were performed, showing characteristics of disease-causing variants. This new SAMD9 variant (p.F437S) also causes MIRAGE syndrome.
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spelling pubmed-82756062021-07-20 The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms Kawashima-Sonoyama, Yuki Okuno, Keisuke Dohmoto, Tomotsune Tanase-Nakao, Kanako Narumi, Satoshi Namba, Noriyuki Hum Genome Var Data Report We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered to have familial dysautonomia (FD)-like disease due to increased levels of catecholamine metabolites. Functional analyses of F437S-SAMD9 were performed, showing characteristics of disease-causing variants. This new SAMD9 variant (p.F437S) also causes MIRAGE syndrome. Nature Publishing Group UK 2021-07-12 /pmc/articles/PMC8275606/ /pubmed/34253717 http://dx.doi.org/10.1038/s41439-021-00158-6 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Kawashima-Sonoyama, Yuki
Okuno, Keisuke
Dohmoto, Tomotsune
Tanase-Nakao, Kanako
Narumi, Satoshi
Namba, Noriyuki
The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
title The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
title_full The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
title_fullStr The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
title_full_unstemmed The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
title_short The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms
title_sort case of a patient with mirage syndrome with familial dysautonomia-like symptoms
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275606/
https://www.ncbi.nlm.nih.gov/pubmed/34253717
http://dx.doi.org/10.1038/s41439-021-00158-6
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