A New Variant in the MYH11 Gene in a Familial Case of Thoracic Aortic Aneurysm.

Aged Aortic Aneurysm, Thoracic / genetics Humans Male Mutation, Missense Myosin Heavy Chains / genetics

Journal

The Annals of thoracic surgery
ISSN: 1552-6259
Titre abrégé: Ann Thorac Surg
Pays: Netherlands
ID NLM: 15030100R

Informations de publication

Date de publication:
04 2020
Historique:
received: 27 06 2019
accepted: 04 07 2019
pubmed: 2 9 2019
medline: 21 5 2020
entrez: 2 9 2019
Statut: ppublish

Résumé

MYH11 (myosin heavy chain 11) gene is involved in vascular contractility and several autosomal dominant mutations have been linked to thoracic aortic aneurysms. Three male members of the same family were found to carry a heterozygous missense variant in the MYH11 gene and all 3 individuals presented a thoracic aortic aneurysm/dilation. We identified a rare missense variant in the MYH11 gene predicted to be damaging and affecting a conserved amino acid in the myosin tail of the protein. This variant appears to be responsible for our familial case of thoracic aortic aneurysms, as the clinical expression reunited all features of genetic aneurysms.

Identifiants

DOI: 10.1016/j.athoracsur.2019.07.030 PMID: 31473177
pubmed: 31473177
pii: S0003-4975(19)31254-8
doi: 10.1016/j.athoracsur.2019.07.030
pii:
doi:

Substances chimiques

MYH11 protein, human 0
Myosin Heavy Chains EC 3.6.4.1

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

e279-e281

Informations de copyright

Copyright © 2020 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Auteurs

Lorenzo Pucci (L)

Department of Heart and Vessels, Service of Cardiology, University Hospital of Lausanne, Lausanne, Switzerland. Electronic address: lorenzo.pucci@chuv.ch.

Alexandra Pointet (A)

Department of Hand Surgery, University Hospital of Strasbourg, Strasbourg, France.

Jean-Marc Good (JM)

Department of Medical Genetics, Hôpital Nestlé, University Hospital of Lausanne, Lausanne, Switzerland.

Emeline Davoine (E)

Department of Medical Genetics, Hôpital Nestlé, University Hospital of Lausanne, Lausanne, Switzerland.

Viviane Cina (V)

Department of Medical Genetics, Hôpital Nestlé, University Hospital of Lausanne, Lausanne, Switzerland.

Fabio Zanchi (F)

Department of Radiology, University Hospital of Lausanne, Lausanne, Switzerland.

Sebastien Deglise (S)

Department of Heart and Vessels, Service of Vascular Surgery, University Hospital of Lausanne, Lausanne, Switzerland.

Lucia Mazzolai Duchosal (LM)

Department of Heart and Vessels, Service of Angiology, University Hospital of Lausanne, Lausanne, Switzerland.

Matthias Kirsch (M)

Department of Heart and Vessels, Service of Heart Surgery, University Hospital of Lausanne, Lausanne, Switzerland.

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Sujet âgé › A New Variant in the MYH11 Gene in a Familial...
questionsmedicales.fr › Maladies cardiovasculaires › Maladies vasculaires › Maladies de l'aorte › Anévrysme de l'aorte › Anévrysme de l'aorte thoracique › A New Variant in the MYH11 Gene in a Familial...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A New Variant in the MYH11 Gene in a Familial...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation faux-sens › A New Variant in the MYH11 Gene in a Familial...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines du cytosquelette › Protéines des microfilaments › Myosines › Chaînes lourdes de myosine › A New Variant in the MYH11 Gene in a Familial...