Key result
Whole exome sequencing identified a homozygous variant in the AGRN gene and a heterozygous variant in the RPL3L gene in a patient with CPVT, suggesting new candidate disease genes.
Why the study?
Approximately 35% of CPVT patients lack an identified genetic etiology, suggesting other causative genes remain to be discovered.
Case Report (n=1)
The identification of novel variants in the AGRN and RPL3L genes suggests new candidate genes and potential digenic inheritance for catecholaminergic polymorphic ventricular tachycardia.
No takes yet. Share an insight, caveat, or question.
Does not support changes to CPVT genetic testing or management; hypothesis-generating and requires validation in larger cohorts.
Jaouadi et al. (2022) conducted a case report in Catecholaminergic polymorphic ventricular tachycardia (CPVT) (n=1). AGRN and RPL3L gene variants was evaluated on Identification of candidate disease genes. Whole exome sequencing identified a homozygous variant in the AGRN gene and a heterozygous variant in the RPL3L gene in a patient with CPVT, suggesting new candidate disease genes.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: