Why the study?
Are OBSCN mutations a causal factor in the development of dilated cardiomyopathy?
Are OBSCN mutations a causal factor in the development of dilated cardiomyopathy?
Mutations in the obscurin gene (OBSCN) are identified as a significant causal factor for dilated cardiomyopathy via haploinsufficiency.
Supports cautious OBSCN inclusion in DCM panels; leaves open larger prospective validation.
OBSCN mutations may result in the development of a DCM phenotype via haploinsufficiency. Mutations in the obscurin gene should be considered as a significant causal factor of DCM, alone or in concert with other mutations.
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Marston et al. (2015) studied this question.
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