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Danon disease ( DD ), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene (  LAMP2  ). Three main clinical features of this pathology are cardiomyopathy, skeletal myopathy, and mental retardation. Most Danon disease mutations create premature stop codons resulting in the decrease or absence of   LAMP2   protein.The present case reports the frameshift variant c.190_191delАС in the   LAMP2   in the family with sudden cardiac death history and three members with cardiomyopathy. The presenting phenotype in a female proband with c.190_191delАС was isolated dilated cardiomyopathy in her thirties whereas in two males,  DD  presented as hypertrophic cardiomyopathy and mild skeletal myopathy since childhood. To examine the contribution of X-inactivation to cardiomyopathy onset we estimated the X-inactivation status in the heart tissue of the affected female. We observed the random pattern (66:34) with the proportion of cardiomyocytes expressing healthy   LAMP2   allele reduced to 34%. Deletion c.190_191delАС has led to a complete loss of function   LAMP2   due to a single copy of this gene in males. In a woman, cardiomyopathy developed because of both the   LAMP2   mutation and a decrease in the expression of a healthy allele in the heart.Based on the strong association of truncating   LAMP2   mutations with  DD  and phenotypes in affected members, the variant c.190_191delАС was classified as pathogenic.

New deletion in LAMP2 causing familial Danon disease. Effect of the X-chromosome inactivation