title: Cosegregation of two unlinked mutant alleles in some cases of autosomal dominant familial exudative vitreoretinopathy.
abstract: Familial exudative vitreoretinopathy (FEVR) is a bilateral, clinically and genetically heterogeneous hereditary eye disorder that affects both the retina and the vitreous body. The condition has a high degree of penetrance and variable expressivity. In some cases of autosomal dominant FEVR (AD FEVR), mutations in the frizzled-4 gene (FZD-4) have been shown to be involved in FEVR pathology. In this study, we report that a second unlinked gene (Factor V) is also mutated (Leiden mutation) in the same family, which harbors the FZD-4 gene mutation. These results show for the first time that some families with FEVR could be digenic. While this is unlikely to be a widespread problem, the occurrence of digenic disorders with apparently simple Mendelian inheritance patterns renders the current method of analysis of monogenic disorders by linkage and mutation screening incomplete.
authors.affiliation: Department of Biological Sciences, Oakland University Rochester, MI 48309, USA. shastry@oakland.edu
authors.forename: B S
authors.initials: BS
authors.lastname: Shastry
authors.forename: M T
authors.initials: MT
authors.lastname: Trese
mesh_terms: D000483:Alleles; D004252:DNA Mutational Analysis; D005165:Factor V / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D018630:Vitreoretinopathy, Proliferative / Q000235:genetics*
chemical_list: D011506:Proteins; D005165:Factor V