title: Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.
abstract: Mutations in the glucokinase gene (GCK) account for many cases of monogenic diabetes featuring maturity-onset diabetes of the young type 2 (MODY2). The clinical pattern of this form of hyperglycemia is rather stable, with a slight elevation in blood glucose, which is usually not progressive. Patients rarely require pharmacological interventions and microvascular complications related to diabetes are unusual. We describe the clinical follow-up of two cases of MODY2 with two different mutations in GCK gene, one in exon 7, p.Glu265Lys (c.793 G> A), which has been previously described, and a novel one, in exon 2, p.Ser69Stop (c. 206C> G). The clinical course of both cases shows similarity in metabolic control of this form of diabetes over the years.
authors.affiliation: Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brazil.
authors.forename: Thais
authors.initials: T
authors.lastname: DellaManna
authors.forename: Magnus R da
authors.initials: MR
authors.lastname: Silva
authors.forename: Antonio Roberto
authors.initials: AR
authors.lastname: Chacra
authors.forename: Ilda S
authors.initials: IS
authors.lastname: Kunii
authors.forename: Ana Luiza
authors.initials: AL
authors.lastname: Rolim
authors.forename: Gilberto
authors.initials: G
authors.lastname: Furuzawa
authors.forename: Rui Monteiro de Barros
authors.initials: RM
authors.lastname: Maciel
authors.forename: André Fernandes
authors.initials: AF
authors.lastname: Reis
mesh_terms: D001938:Brazil; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology / Q000235:genetics*; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D005941:Glucokinase