A deleterious MYH11 mutation causing familial thoracic aortic dissection

The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of T...

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Autores principales: Takeda, Norifumi, Morita, Hiroyuki, Fujita, Daishi, Inuzuka, Ryo, Taniguchi, Yuki, Nawata, Kan, Komuro, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785537/
https://www.ncbi.nlm.nih.gov/pubmed/27081537
http://dx.doi.org/10.1038/hgv.2015.28
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author Takeda, Norifumi
Morita, Hiroyuki
Fujita, Daishi
Inuzuka, Ryo
Taniguchi, Yuki
Nawata, Kan
Komuro, Issei
author_facet Takeda, Norifumi
Morita, Hiroyuki
Fujita, Daishi
Inuzuka, Ryo
Taniguchi, Yuki
Nawata, Kan
Komuro, Issei
author_sort Takeda, Norifumi
collection PubMed
description The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of TAAD/PDA have not been elucidated. Here we report the first familial case of TAAD with only a MYH11 L1264P mutation, in which PDA was not observed, indicating that L1264P, not R1275L, is responsible for TAAD formation.
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spelling pubmed-47855372016-04-14 A deleterious MYH11 mutation causing familial thoracic aortic dissection Takeda, Norifumi Morita, Hiroyuki Fujita, Daishi Inuzuka, Ryo Taniguchi, Yuki Nawata, Kan Komuro, Issei Hum Genome Var Data Report The L1264P and R1275L heterozygous mutations of the myosin heavy chain 11 (MYH11) gene, which are on the same allele, have been reported to cause thoracic aortic aneurysms and/or dissections (TAAD) complicated with patent ductus arteriosus (PDA); however, their contributions to the pathogenesis of TAAD/PDA have not been elucidated. Here we report the first familial case of TAAD with only a MYH11 L1264P mutation, in which PDA was not observed, indicating that L1264P, not R1275L, is responsible for TAAD formation. Nature Publishing Group 2015-08-06 /pmc/articles/PMC4785537/ /pubmed/27081537 http://dx.doi.org/10.1038/hgv.2015.28 Text en Copyright © 2015 The Japan Society of Human Genetics http://creativecommons.org/licenses/by-nc-nd/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/
spellingShingle Data Report
Takeda, Norifumi
Morita, Hiroyuki
Fujita, Daishi
Inuzuka, Ryo
Taniguchi, Yuki
Nawata, Kan
Komuro, Issei
A deleterious MYH11 mutation causing familial thoracic aortic dissection
title A deleterious MYH11 mutation causing familial thoracic aortic dissection
title_full A deleterious MYH11 mutation causing familial thoracic aortic dissection
title_fullStr A deleterious MYH11 mutation causing familial thoracic aortic dissection
title_full_unstemmed A deleterious MYH11 mutation causing familial thoracic aortic dissection
title_short A deleterious MYH11 mutation causing familial thoracic aortic dissection
title_sort deleterious myh11 mutation causing familial thoracic aortic dissection
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785537/
https://www.ncbi.nlm.nih.gov/pubmed/27081537
http://dx.doi.org/10.1038/hgv.2015.28
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