Whole genome sequencing identified a novel pathogenic mutation in the LMNA gene (c.134delA:p.Y45Sfs*51) in a patient with familial cardiomyopathy, leading to a change in treatment strategy.
Case Report (n=1)
Identification of a novel pathogenic LMNA mutation via whole genome sequencing can significantly alter treatment strategies in familial cardiomyopathy.
We present a clinical case of familial LMNA-associated cardiomyopathy, confirmed by whole genome sequencing. The typical for lamin-associated cardiomyopathy indicates pathogenic nature of the mutation in the first exon of LMNA gene, previously considered a mutation of unknown clinical significance. The presented clinical case demonstrates a radical change in patient treatment strategies in the context of the widespread introduction of molecular genetic research methods into practice.
Kashtanova et al. (Thu,) conducted a case report in Familial cardiomyopathy (n=1). Whole genome sequencing was evaluated on Genetic diagnosis and clinical management. Whole genome sequencing identified a novel pathogenic mutation in the LMNA gene (c.134delA:p.Y45Sfs*51) in a patient with familial cardiomyopathy, leading to a change in treatment strategy.