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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Bibliographic Details
Published inCardiovascular ultrasound Vol. 8; no. 1; p. 9
Main Authors Botto, Nicoletta, Vittorini, Simona, Colombo, Maria Giovanna, Biagini, Andrea, Paradossi, Umberto, Aquaro, Giovanni, Andreassi, Maria Grazia
Format Journal Article
LanguageEnglish
Published England BioMed Central Ltd 22.03.2010
BioMed Central
BMC
Subjects
Cardiomyopathy, Dilated - diagnostic imaging
Cardiomyopathy, Dilated - genetics
Cardiomyopathy, Dilated - physiopathology
Case report
Death, Sudden, Cardiac
Echocardiography
Exons - genetics
Family Health
Female
Heart Conduction System - physiopathology
Humans
Lamin Type A - genetics
Loss of Heterozygosity
Magnetic Resonance Imaging
Male
Middle Aged
Mutation, Missense
Pedigree
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
ObjectType-Article-3
ISSN:1476-7120
1476-7120
DOI:10.1186/1476-7120-8-9