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Lekanne Deprez on Muck Rack

Lekanne Deprez

As seen in: Color Research & Application
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Articles

The arrhythmogenic cardiomyopathy phenotype associated with PKP2 c.1211dup variant - Netherlands Heart Journal

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By Sebastiaan R D, Lekanne Deprez, van Mil, te Riele
| link.springer.com
Abstract Background The arrhythmogenic cardiomyopathy (ACM) phenotype, with life-threatening ventricular arrhythmias and heart failure, varies according to genetic aetiology. We aimed to characterise the phenotype associated with the variant c.1211dup (p.Val406Serfs*4) in the plakophilin‑2 gene (PKP2) and compare it with previously reported Dutch PKP2 founder variants. Methods Clinical data were collected retrospectively from medical records of 106 PKP2 c.1211dup heterozygous carriers.
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The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy

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By Lekanne Deprez, Jan D. H., te Rijdt, Daniela Q. C. M.
| Color Research & Application Verified
Research LetterThe first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathyAuthorsEdgar T. Hoorntje,Department of Genetics, University of Groningen, University Medical Centre Groningen, Groningen, the NetherlandsNetherlands Heart Institute, Utrecht, the NetherlandsSearch for more papers by this authorKarin Y.
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Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

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By Jan D. H., Lekanne Deprez, Ingrid A. W., Arthur A. M.
| Color Research & Application Verified
Truncating titin mutations ( tTTN ) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet been systematically studied. We studied whether tTTN variants are associated with a clinically distinguishable form of DCM. We compared clinical data on DCM probands and relatives with a tTTN mutation (n = 45, n = 73), LMNA mutation (n = 28, n = 29), and probands who tested negative for both genes [idiopathic DCM (iDCM); n = 60].
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