TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patients

We report an almost threefold higher diagnostic yield of TTNtv-s in probands with DCM compared to previously reported findings in cohorts of patients with DCM from other populations. We also highlight the need for screening for rare TTNtv-s in the constitutively expressed exons of the I-band and for TTN:c.12478del in patients with DCM in this geographical region.

Authors

Borut Peterlin (ORCID: https://orcid.org/0000-0001-7824-4978)
Karin Writzl (ORCID: https://orcid.org/0000-0003-0388-5361)
Aleš Maver (ORCID: https://orcid.org/0000-0002-9826-0534)
A. Cerar (ORCID: https://orcid.org/0000-0002-8881-2251)
Nina Vodnjov (ORCID: https://orcid.org/0009-0000-5659-2437)

Institutions

University of Ljubljana (SI)
Ljubljana University Medical Centre (SI)
ERN GUARD-Heart (NL)

Publication Details

Journal: Orphanet Journal of Rare Diseases
Published: 2025-02-28
DOI: https://doi.org/10.1186/s13023-025-03613-7
Primary Topic: Cardiomyopathy and Myosin Studies
Type: article
Field-Weighted Citation Impact: 0.00

Funders

Javna Agencija za Raziskovalno Dejavnost RS

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article

TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patients

Borut Peterlin, Karin Writzl, Aleš Maver, A. Cerar et al.

Feb 28, 2025

Orphanet Journal of Rare Diseases

Cardiomyopathy and Myosin Studies

article

TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patients

Borut Peterlin, Karin Writzl, Aleš Maver, A. Cerar, Nina Vodnjov

February 28, 2025article en

Abstract

We report an almost threefold higher diagnostic yield of TTNtv-s in probands with DCM compared to previously reported findings in cohorts of patients with DCM from other populations. We also highlight the need for screening for rare TTNtv-s in the constitutively expressed exons of the I-band and for TTN:c.12478del in patients with DCM in this geographical region.

Orphanet Journal of Rare DiseasesVol. 20(1)

University of Ljubljana (SI), Ljubljana University Medical Centre (SI), ERN GUARD-Heart (NL)

Javna Agencija za Raziskovalno Dejavnost RS

Good health and well-being

Openalex Percentile: Top 94%

Cardiomyopathy and Myosin Studies

DOI Open Access PDF OpenAlex

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