A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report

We describe a case of a patient with idiopathic dilated cardiomyopathy and cardiac conduction abnormalities who presented a strong family history of sudden cardiac death. Genetic screening of lamin A/C gene revealed in proband the presence of a novel missense mutation (R189W), near the most prevalen...

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Autores principales: Botto, Nicoletta, Vittorini, Simona, Colombo, Maria Giovanna, Biagini, Andrea, Paradossi, Umberto, Aquaro, Giovanni, Andreassi, Maria Grazia
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859370/
https://www.ncbi.nlm.nih.gov/pubmed/20307303
http://dx.doi.org/10.1186/1476-7120-8-9
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author Botto, Nicoletta
Vittorini, Simona
Colombo, Maria Giovanna
Biagini, Andrea
Paradossi, Umberto
Aquaro, Giovanni
Andreassi, Maria Grazia
author_facet Botto, Nicoletta
Vittorini, Simona
Colombo, Maria Giovanna
Biagini, Andrea
Paradossi, Umberto
Aquaro, Giovanni
Andreassi, Maria Grazia
author_sort Botto, Nicoletta
collection PubMed
description We describe a case of a patient with idiopathic dilated cardiomyopathy and cardiac conduction abnormalities who presented a strong family history of sudden cardiac death. Genetic screening of lamin A/C gene revealed in proband the presence of a novel missense mutation (R189W), near the most prevalent lamin A/C mutation (R190W), suggesting a "hot spot" region at exon 3.
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spelling pubmed-28593702010-04-27 A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report Botto, Nicoletta Vittorini, Simona Colombo, Maria Giovanna Biagini, Andrea Paradossi, Umberto Aquaro, Giovanni Andreassi, Maria Grazia Cardiovasc Ultrasound Case report We describe a case of a patient with idiopathic dilated cardiomyopathy and cardiac conduction abnormalities who presented a strong family history of sudden cardiac death. Genetic screening of lamin A/C gene revealed in proband the presence of a novel missense mutation (R189W), near the most prevalent lamin A/C mutation (R190W), suggesting a "hot spot" region at exon 3. BioMed Central 2010-03-22 /pmc/articles/PMC2859370/ /pubmed/20307303 http://dx.doi.org/10.1186/1476-7120-8-9 Text en Copyright ©2010 Botto et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case report
Botto, Nicoletta
Vittorini, Simona
Colombo, Maria Giovanna
Biagini, Andrea
Paradossi, Umberto
Aquaro, Giovanni
Andreassi, Maria Grazia
A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report
title A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report
title_full A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report
title_fullStr A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report
title_full_unstemmed A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report
title_short A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report
title_sort novel lmna mutation (r189w) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report
topic Case report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2859370/
https://www.ncbi.nlm.nih.gov/pubmed/20307303
http://dx.doi.org/10.1186/1476-7120-8-9
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