Homozygous truncating variants in the GCOM1 gene caused fully penetrant recessive dilated cardiomyopathy in six affected individuals from two Finnish families, while heterozygous carriers remained unaffected.
Observational (n=24)
No
Highlights the importance of searching for new candidate genes like the GRINL1A complex when targeted gene panels are negative in dilated cardiomyopathy.
Absolute Event Rate: 100% vs 0%
variants as a cause of human cardiomyopathy and highlights the importance of searching for new candidate genes when targeted gene panels do not yield a positive outcome.
Heliö et al. (Thu,) conducted a observational in Dilated Cardiomyopathy (n=24). Homozygous truncating GCOM1 variants vs. Heterozygous or wild-type alleles was evaluated on Cardiomyopathy diagnosis. Homozygous truncating variants in the GCOM1 gene caused fully penetrant recessive dilated cardiomyopathy in six affected individuals from two Finnish families, while heterozygous carriers remained unaffected.