Article
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
BMC medical genetics - 14 Jan 2016
Al-Hassnan Zuhair N, Shinwari Zarghuna Ma, Wakil Salma M, Tulbah Sahar, Mohammed Shamayel, Rahbeeni Zuhair, Alghamdi Mohammed, Rababh Monther, Colak Dilek, Kaya Namik, Al-Fayyadh Majid, Alburaiki Jehad
Abstract excerpt
BACKGROUND: Familial 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....
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