Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.
E, v.D., FHM, v.L., R, Z., J, W., Y, C., AV, P., MG, E., JJM, v.S., PA, v.d.Z., & JDH, J. (2026). Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.. Journal of cardiovascular translational research. https://doi.org/10.1007/s12265-026-10792-6
E vD, FHM vL, R Z, J W, Y C, AV P, et al. Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.. Journal of cardiovascular translational research. 2026; doi: 10.1007/s12265-026-10792-6
E vD, FHM vL, R Z, et al. Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.[J]. Journal of cardiovascular translational research. 2026. DOI: 10.1007/s12265-026-10792-6.
@article{e2026,
author = {van Drie E and van Lint FHM and Zwart R and Wang J and Chen Y and Postma AV and Elferink MG and van Steenbrugge JJM and van der Zwaag PA and Jongbloed JDH},
title = {Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity.},
journal = {Journal of cardiovascular translational research},
year = {2026},
doi = {10.1007/s12265-026-10792-6},
note = {PMID: 42350697},
}
TY - JOUR AU - van Drie E AU - van Lint FHM AU - Zwart R AU - Wang J AU - Chen Y AU - Postma AV AU - Elferink MG AU - van Steenbrugge JJM AU - van der Zwaag PA AU - Jongbloed JDH TI - Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosity. T2 - Journal of cardiovascular translational research PY - 2026 DO - 10.1007/s12265-026-10792-6 AN - PMID:42350697 ER -
Studying the global distribution of the pathogenic variant c.40_42delAGA;p.(Arg14del) in the phospholamban (PLN) gene is highly important for raising awareness among healthcare providers and may help uncover factors contributing to variability in the development of associated cardiomyopathy phenotypes. PLN p.(Arg14del)-positive individuals were identified through a PubMed literature search, our clinical and research networks, and ClinVar. Additionally, population prevalences were determined using publicly available genetic databases. Furthermore, haplotype analysis was conducted using haplotype markers or whole genome sequencing data to assess whether newly identified cases across different continents share common ancestry. The PLN p.(Arg14del) variant was identified in 21 countries across four continents. Haplotype marker analysis suggest that most analyzed individuals, except those from Greece, shared at least part of a common haplotype. The PLN p.(Arg14del) variant is present in at least 2000 carriers globally. While the majority share at least part of a common haplotype, suggesting a common founder, data suggest an independent mutational event in Greek patients.