title: A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families.
abstract: Six Brazilian families with mild familial hyperglycaemia have been screened for glucokinase (GCK) mutations. All had mutations that co-segregated with the phenotype. One of the mutations, the deletion 96_98delAAG (p.Lys32del), had not been previously described, reinforcing the worldwide prevalence of GCK MODY and widespread existence of undetected new mutations.
authors: Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil.
authors: Fernando M A
authors: FM
authors: Giuffrida
authors: Luis Eduardo
authors: LE
authors: Calliari
authors: Thais Della
authors: TD
authors: Manna
authors: João Guimarães
authors: JG
authors: Ferreira
authors: Pedro
authors: P
authors: Saddi-Rosa
authors: Ilda S
authors: IS
authors: Kunii
authors: Gilberto K
authors: GK
authors: Furuzawa
authors: Magnus R
authors: MR
authors: Dias-da-Silva
authors: Andre F
authors: AF
authors: Reis
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001938:Brazil; D002648:Child; D003924:Diabetes Mellitus, Type 2 / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D017384:Sequence Deletion / Q000235:genetics; D055815:Young Adult
chemical_list: D005941:Glucokinase