biostudies-literatureUnknown12(2)Perrot A<h4>Introduction</h4>Transgenic mice overexpressing mutated NEBL, encoding the cardiac-specific Z-disk protein nebulette, develop severe cardiac phenotypes. Since cardiomyopathies are commonly familial and because mutations in a single gene may result in variable phenotypes, we tested the hypothesis that NEBL mutations are associated with cardiomyopathy.<h4>Material and methods</h4>We analyzed 389 patients, including cohorts of patients with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and left ventricular non-compaction cardiomyopathy (LVNC). The 28 coding exons of the NEBL gene were sequenced. Further bioinformatic analysis was used to distinguish variants.<h4>Results</h4>In total, we identified six very rare heterozygous missense mutations in NEBL in 7 different patiArchives of medical science : AMS263-78https://www.ebi.ac.uk/biostudies/studies/S-EPMC4848357biostudies-literatureMutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.PMC4848357Lohmann NFaludi RMelacini PAngelini ASperling SRSimor TCharron PDe Bortoli MPerrot AVarga-Szemes ARichard PVillard EVeselka JTomasov POzcelik CLossie JfalseMutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.<h4>Introduction</h4>Transgenic mice overexpressing mutated NEBL, encoding the cardiac-specific Z-disk protein nebulette, develop severe cardiac phenotypes. Since cardiomyopathies are commonly familial and because mutations in a single gene may result in variable phenotypes, we tested the hypothesis that NEBL mutations are associated with cardiomyopathy.<h4>Material and methods</h4>We analyzed 389 patients, including cohorts of patients with dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and left ventricular non-compaction cardiomyopathy (LVNC). The 28 coding exons of the NEBL gene were sequenced. Further bioinformatic analysis was used to distinguish variants.<h4>Results</h4>In total, we identified six very rare heterozygous missense mutations in NEBL in 7 different pati2016-01-01T00:00:00Z2016 Apr2025-04-21T14:41:56.155Z2019-03-27T02:12:35ZS-EPMC48483572718616910.5114/aoms.2016.59250