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Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients
ID
Vodnjov, Nina
(
Author
),
ID
Zupan Mežnar, Anja
(
Author
),
ID
Maver, Aleš
(
Author
),
ID
Dolinšek, Ajda
(
Author
),
ID
Peterlin, Borut
(
Author
),
ID
Writzl, Karin
(
Author
)
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MD5: 21F2EE5ADEC9A096F27D4E73C271162E
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https://onlinelibrary.wiley.com/doi/10.1111/cge.14567
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Abstract
DSP-cardiomyopathy has recently been recognised as a specific type of cardiomyopathy. Using an in-house Mendelian disease registry, we aimed to identify probands with likely pathogenic or pathogenic DSP variants. We detected these variants in 4.8% and 77.8% of genotype-positive probands referred for dilated and non-dilated left ventricular cardiomyopathy (NDLVC), respectively. We identified six Slovenian probands with the DSP:c.3793G>T and characterised them along with further eight of their relatives at the molecular and phenotypic level. Medical records revealed NDLVC with arrhythmia in six individuals (five probands, one relative; 33 ± 14 years; three males, three females). All had subepicardial late gadolinium enhancement on cardiac MRI (CMRI), and five received an ICD. Four individuals (one proband, three relatives; 48 ± 14 years; all female) had no ECG and/or cardiac abnormalities on CMRI detected. Our analysis presents a Slovenian-specific molecular pathology of DSP cardiomyopathy, delineates the clinical manifestation of DSP:c.3793C>T, and thereby improves the understanding of the clinical outcomes associated with truncating DSP variants.
Language:
English
Keywords:
arrhythmogenic non-dilated left ventricular cardiomyopathy
,
cardiogenetics
,
cardiology
,
DSP
,
DSP:c.3793G>T
,
founder
Work type:
Article
Typology:
1.01 - Original Scientific Article
Organization:
BF - Biotechnical Faculty
MF - Faculty of Medicine
Publication status:
Published
Publication version:
Version of Record
Year:
2024
Number of pages:
Str. 500–504
Numbering:
Vol. 106, iss. 4
PID:
20.500.12556/RUL-161044-3686099f-5c1a-0cdb-059b-853f62acfee4
UDC:
575:61
ISSN on article:
0009-9163
DOI:
10.1111/cge.14567
COBISS.SI-ID:
198735619
Publication date in RUL:
06.09.2024
Views:
53
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21
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Record is a part of a journal
Title:
Clinical genetics
Shortened title:
Clin. genet.
Publisher:
Wiley
ISSN:
0009-9163
COBISS.SI-ID:
21015
Licences
License:
CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Link:
http://creativecommons.org/licenses/by-nc-nd/4.0/
Description:
The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.
Projects
Funder:
ARIS - Slovenian Research and Innovation Agency
Project number:
P3-0326
Name:
Ginekologija in reprodukcija: genomika za personalizirano medicino
Funder:
ARIS - Slovenian Research and Innovation Agency
Project number:
V3-2359
Name:
Inovativno izobraževanje na področju redkih bolezni
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