文摘
A national registry of MODY cases in Brazil was established. 311 individuals were assessed, 72 with GCK mutations and 31 with HNF1A mutations. One new GCK mutation, Gly178Ala, has been described. GCK mutations are common in Brazilian individuals with non-progressive mild familial hyperglycemia. Only 14% of patients with early-onset familial diabetes carry a HNF1A mutations.