ArticleBMC medical genetics2015
A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- Geographical and Ethnic Heterogeneity in Genetic Dilated Cardiomyopathies.International journal of molecular sciences · 2026Pooled it
- Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals.Clinical research in cardiology : official journal of the German Cardiac Society · 2017Pooled it
- Hypertrophic cardiomyopathy associate with aAME case reports · 2026Article
- Genetic landscape of phospholamban cardiomyopathies.Frontiers in cell and developmental biology · 2025Review
- Prediction of ventricular arrhythmia in phospholamban p.Arg14del mutation carriers-reaching the frontiers of individual risk prediction.European heart journal · 2021Article
- Cardiomyopathies: An Overview.International journal of molecular sciences · 2021Review
- A NovelDiagnostics (Basel, Switzerland) · 2020Article
- BET bromodomain proteins regulate transcriptional reprogramming in genetic dilated cardiomyopathy.JCI insight · 2020Article
- Gene therapy for inherited arrhythmias.Cardiovascular research · 2020Review
- Genetics of inherited cardiomyopathies in Africa.Cardiovascular diagnosis and therapy · 2020Review
- Novel Therapies for Prevention and Early Treatment of Cardiomyopathies.Circulation research · 2019Review
- Genetics of Dilated Cardiomyopathy: Clinical Implications.Current cardiology reports · 2018Review
- Role of copy number variants in sudden cardiac death and related diseases: genetic analysis and translation into clinical practice.European journal of human genetics : EJHG · 2018Article
- Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.Circulation research · 2017Review
- Cardiac Med1 deletion promotes early lethality, cardiac remodeling, and transcriptional reprogramming.American journal of physiology. Heart and circulatory physiology · 2017Article
- Clinical and Mechanistic Insights Into the Genetics of Cardiomyopathy.Journal of the American College of Cardiology · 2016Review
- Article
- Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies.Scientific reports · 2016Article
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Authors and funding
22 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIn humans mutations in the PLN gene, encoding phospholamban - a regulator of sarcoplasmic reticulum calcium ATPase (SERCA), cause cardiomyopathy with prevalence depending on the population. Our purpose was to identify PLN mutations in Polish cardiomyopathy patients.
methodsWe studied 161 unrelated subjects referred for genetic testing for cardiomyopathies: 135 with dilated cardiomyopathy, 22 with hypertrophic cardiomyopathy and 4 with other cardiomyopathies. In 23 subjects multiple genes were sequenced by next generation sequencing and in all subjects PLN exons were analyzed by Sanger sequencing. Control group included 200 healthy subjects matched with patients for ethnicity, sex and age. Large deletions/insertions were screened by real time polymerase chain reaction.
resultsWe detected three different heterozygous mutations in the PLN gene: a novel null c.9_10insA:(p.Val4Serfs*15) variant and two missense variants: c.25C > T:(p.Arg9Cys) and c.26G > T:(p.Arg9Leu). The (p.Val4Serfs*15) variant occurred in the patient with Wolff-Parkinson-White syndrome in whom the diagnosis of cardiomyopathy was not confirmed and his mother who had concentric left ventricular remodeling but normal left ventricular mass and function. We did not detect large deletions/insertions in PLN in cohort studied.
conclusionsIn Poland, similar to most populations, PLN mutations rarely cause cardiomyopathy. The 9(th) PLN residue is apparently a mutation hot spot whereas a single dose of c.9_10insA, and likely other null PLN mutations, cause the disease only with low penetrance or are not pathogenic.
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