Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes.

David Altshuler and colleagues sequenced seven genes for maturity-onset diabetes of the young (MODY), a dominant Mendelian disorder, in 4,003 individuals drawn from three population-based cohorts. They find ~2% of individuals unselected for phenotype carry low frequency variants in one of these MODY genes, predicted as likely to be pathogenic; however most of these individuals remain asymptomatic through middle age.