Associated disorders

The PLN gene is associated with autosomal dominant dilated cardiomyopathy (DCM) (MedGen UID: 322782), hypertrophic cardiomyopathy (HCM) (MedGen UID: 462615), and arrhythmogenic right ventricular cardiomyopathy (ARVC) (PMID: 22820313).

Pathogenic variants in PLN are a rare cause of DCM, HCM, and ARVC.

The PLN gene encodes phospholambin, a regulator of the sarcoplasmic reticulum calcium pump in cardiac muscle, which is important for maintaining Ca2+ homeostasis.

  1. Pugh TJ, et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. 2014 Genet Med Aug; 16(8):601-608. PMID: 24503780
  2. van, Rijsingen, IA, et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ Cardiovasc Genet. 2014; 7(4):455-65. doi: 10.1161/CIRCGENETICS.113.000374. PMID: 24909667
  3. Chiu, C, et al. Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy. J. Mol. Cell. Cardiol. 2007; 43(3):337-43. doi: 10.1016/j.yjmcc.2007.06.009. PMID: 17655857
  4. Groeneweg, JA, et al. Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. Am. J. Cardiol. 2013; 112(8):1197-206. doi: 10.1016/j.amjcard.2013.06.017. PMID: 23871674
  5. van, der, Zwaag, PA, et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur. J. Heart Fail. 2012; 14(11):1199-207. doi: 10.1093/eurjhf/hfs119. PMID: 22820313
  6. Landstrom, AP, et al. PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing. Am. Heart J. 2011; 161(1):165-71. doi: 10.1016/j.ahj.2010.08.001. PMID: 21167350
  7. Haghighi, K, et al. Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J. Clin. Invest. 2003; 111(6):869-76. doi: 10.1172/JCI17892. PMID: 12639993

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
PLN NM_002667.3