Genetic and Phenotypic Characterization of Nexilin (NEXN)-Related Cardiomyopathy: Results From a Multicentric Study.

ABSTRACT:

Background

Nexilin (NEXN)-related cardiomyopathies (CMPs) are largely unexplored.

Objectives

This study investigated the causative role of NEXN in CMPs, examining its phenotypic expression and prognostic profile.

Methods

Twelve referral centers collected phenotypic/genotypic data of patients with NEXN variants. Variant rarity was determined according to gnomAD allele frequency in CMPs. Burden enrichment tested rare NEXN variants in hypertrophic (HCM) and dilated cardiomyopathy (DCM)/nondilated left ventricular cardiomyopathy (NDLVC) CMPs against gnomAD non-Finnish Europeans (NFE). Outcomes of validated variants were detailed, with prognostic comparisons to Titin (TTN)- and Filamin C (FLNC)-related CMP cohorts.

Results

Involving 60 NEXN carriers with rare, prote

SUBMITTER: Perotto M 

PROVIDER: S-EPMC12405182 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature