Background:Desminopathy,a hereditary myofibrillar myopathy,mainly results from the desmin gene (DES) mutations.Desminopathy involves various phenotypes,mainly including different cardiomyopathies,skeletal myopathy,and arrhythmia.Combined with genotype,it helps us precisely diagnose and treat for desminopathy.Methods:Sanger sequencing was used to characterize DES variation,and then a minigene assay was used to verify the effect of splice-site mutation on pre-mRNA splicing.Phenotypes were analyzed based on clinical characteristics associated with desminopathy.Results:A splicing mutation (c.735+1G＞T) in DES was detected in the proband.A minigene assay revealed skipping of the whole exon 3 and transcription of abnormal pre-mRNA lacking 32 codons.Another affected family member who carried the identical mutation,was identified with a novel phenotype of desminopathy,non-compaction of ventricular myocardium.There were 2 different phenotypes varied in cardiomyopathy and skeletal myopathy among the 2 patients,but no significant correlation between genotype and phenotype was identified.Conclusions:We reported a novel phenotype with a splicing mutation in DES,enlarging the spectrum of phenotype in desminopathy.Molecular studies of desminopathy should promote our understanding of its pathogenesis and provide a precise molecular diagnosis of this disorder,facilitating clinical prevention and treatment at an early stage.