A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosis.

ABSTRACT: Cardiovascular disease (CVD) is a major cause of death in Western societies. CVD risk is largely genetically determined. The molecular pathology is, however, not elucidated in a large number of families suffering from CVD. We applied exclusion linkage analysis and next-generation sequencing to elucidate the molecular defect underlying premature CVD in a small pedigree, comprising two generations of which six members suffered from premature CVD. A total of three variants showed co-segregation with the disease status in the family. Two of these variants were excluded from further analysis based on the prevalence in replication cohorts, whereas a non-synonymous variant in MCF.2 Cell Line Derived Transforming Sequence-like protein (MCF2L, c.2066A>G; p.(Asp689Gly); NM_001112732.1), located in t

SUBMITTER: Maiwald S 

PROVIDER: S-EPMC4795224 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature