A rare form of LIM domain-binding protein 3 (LDB3) mutation causes hypertrophic cardiomyopathy and myofibrillar myopathy type 4.

Autor: Svaguša T; Department of Cardiovascular Diseases, Dubrava University Hospital, Zagreb, Croatia., Sedlić F; Department of Pathophysiology, University of Zagreb School of Medicine, Zagreb, Croatia., Županić S; Department of Neurology, Dubrava University Hospital, Zagreb, Croatia., Manola Š; Department of Cardiovascular Diseases, Dubrava University Hospital, Zagreb, Croatia., Bakoš M; Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia., Mirošević V; Department of Pathophysiology, University of Zagreb School of Medicine, Zagreb, Croatia., Livun A; Department of Scientific Research and Translational Medicine, Dubrava University Hospital, Zagreb, Croatia.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2024 Nov; Vol. 106 (5), pp. 659-660. Date of Electronic Publication: 2024 Jul 11.
DOI: 10.1111/cge.14585
Abstrakt: Polymorphisms in LDB3 gene can cause various forms of cardiomyopathy and myofibrillar myopathy 4 (MM4). Patient described in this study presented with a hypertrophic cardiomyopathy (HCM) and distal myopathy suggestive of myofibrillar myopathy 4. Genetic analysis using the TruSight Cardio Sequencing Kit (Illumina) revealed suspected LDB3 variant (c.1435G>A, p.(Gly479Arg)). This is the first case in which polymorphism in LDB3 gene is likely responsible for MM4 and HCM in the same patient.
(© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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