A substitution mutation in cardiac ubiquitin ligase FBXO32 is associated with an autosomal recessive form of dilated cardiomyopathy

摘要

BackgroundFamilial dilated cardiomyopathy (DCM) is genetically heterogeneous. Mutations in more than 40 genes have been identified in familial cases, mostly inherited in an autosomal dominant pattern. DCM due to recessive mutations is rarely observed. In consanguineous families, homozygosity mapping and whole exome sequencing (WES) can be utilized to identify the genetic defects in recessively inherited DCM.