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Heart-hand syndrome of Slovenian type : a new kind of laminopathy : letter to JMGRenou, L ...Background: Heart-hand syndromes are a heterogeneous group of genetic disorders characterised by the association of congenital cardiac disease and limb deformities. Laminopathies are a group of ... diseases caused by mutations inthe LMNA gene encoding A-type lamins.Results: We report a new LMNA mutation (c.160912T>G, IVS9-12 T>G) that creates a new cryptic splicing site with the retention of 11 intronic nucleotides in the mRNA. This LMNA mutation segregates with a new type of heart-hand syndrome in a previously reported family suffering from adult onset progressive conduction system disease, atrial and ventricular tachyarrhythmias, sudden death, dilated cardiomyopathy,and brachydactyly with predominant foot involvement. Analysis of the fibroblasts of two affected family members identified for the first time a truncated lamin AlG protein resulting from the frame shift created by the new splicing site, together with nuclear envelope abnormalities confirmingthat this LMNA mutation is pathogenic.Conclusions: This new heart-hand syndrome should therefore be considered as a new kind of laminopathy. As part of laminopathies with heart involvement. patients presenting with this phenotype and their relatives are at risk for developing sud den cardiac death and should beneficiate from appropriate LMNA genetic diagnosis.Source: Journal of Medical Genetics. - ISSN 0022-2593 (Letn. 45, 2008, str. 666-671)Type of material - article, component partPublish date - 2008Language - englishCOBISS.SI-ID - 26435289
Author
Renou, L |
Volk, Marija, dr. med. |
Šinkovec, Matjaž, 1955- |
Peterlin, Borut, 1963-
Topics
Heart Defects, Congenital |
Genetics |
Hand Deformities, Congenital |
Genetics |
Nuclear Matrix |
Mutation |
Electromyography |
Electrocardiography |
Pedigree |
Fibroblasts |
Cells, Cultured |
Polymerase Chain Reaction |
Fluorescent Antibody Technique, Indirect |
Elektromiografija |
Srce, napake prirojene |
Roka, deformacije prirojene |
Jedrni matriks |
Mutacija |
Rodovnik |
Polimerazna, verižna reakcija |
Elektrokardiografija |
Fluorescenčno protitelo, tehnika indirektna |
Fibroblasti |
Celične kulture
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Renou, L | ![]() |
Volk, Marija, dr. med. | 26331 |
Šinkovec, Matjaž, 1955- | 06010 |
Peterlin, Borut, 1963- | 10458 |
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