Identification of a De novo pathogenic missense variant (c.559G>A) in CASZ1 associated with dilated cardiomyopathy

Learning points for cliniciansCASZ1 is a gene associated with cardiomyopathy, yet only a limited number of CASZ1 variants linked to DCM have been identified to date.Our study reports the first missense pathogenic heterozygous variant of CASZ1 (c.559G>A: p. Gly187Ser) for DCM.