A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma

Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral tera...

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Autores principales: Ahmad, Saba, Manon, Luis, Bhat, Gifty, Machado, Jerry, Zalan, Alice, Mata-Machado, Nikolas, Garzon, Steven, Yoshii, Akira
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/PMC7677537/
https://www.ncbi.nlm.nih.gov/pubmed/33298910
http://dx.doi.org/10.1038/s41439-020-00124-8
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author Ahmad, Saba
Manon, Luis
Bhat, Gifty
Machado, Jerry
Zalan, Alice
Mata-Machado, Nikolas
Garzon, Steven
Yoshii, Akira
author_facet Ahmad, Saba
Manon, Luis
Bhat, Gifty
Machado, Jerry
Zalan, Alice
Mata-Machado, Nikolas
Garzon, Steven
Yoshii, Akira
author_sort Ahmad, Saba
collection PubMed
description Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation.
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spelling pubmed-76775372020-11-20 A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma Ahmad, Saba Manon, Luis Bhat, Gifty Machado, Jerry Zalan, Alice Mata-Machado, Nikolas Garzon, Steven Yoshii, Akira Hum Genome Var Data Report Tuberous sclerosis complex (TSC) is an autosomal dominant disease associated with tumors and malformed tissues in the brain and other vital organs. We report a novel de novo frameshift variant of the TSC1 gene (c.434dup;p. Ser146Valfs*8) in a child with TSC who initially presented with a sacral teratoma. This previously unreported association between TSC and teratoma has broad implications for the pathophysiology of embryonic tumors and mechanisms underlying cellular differentiation. Nature Publishing Group UK 2020-11-19 /pmc/articles/PMC7677537/ /pubmed/33298910 http://dx.doi.org/10.1038/s41439-020-00124-8 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
Ahmad, Saba
Manon, Luis
Bhat, Gifty
Machado, Jerry
Zalan, Alice
Mata-Machado, Nikolas
Garzon, Steven
Yoshii, Akira
A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
title A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
title_full A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
title_fullStr A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
title_full_unstemmed A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
title_short A novel TSC1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
title_sort novel tsc1 variant associated with tuberous sclerosis and sacrococcygeal teratoma
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7677537/
https://www.ncbi.nlm.nih.gov/pubmed/33298910
http://dx.doi.org/10.1038/s41439-020-00124-8
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