Our findings suggest that differential effects of mutations on the transactivation potential of c-MAF could be a molecular correlate of the striking genotype-phenotype correlations seen in cataract forms caused by mutations in the MAF gene.
Our findings expand the mutation spectrum of MAF in association with congenital cataract and highlight the genetic and phenotypic heterogeneity of congenital cataract.
A dominant mutation within the DNA-binding domain of the bZIP transcription factor Maf causes murine cataract and results in selective alteration in DNA binding.
Through mutation screening of a panel of patients with hereditary congenital cataract we identified a mutation in MAF in a three-generation family with cataract, microcornea and iris coloboma.