Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with clinical MODY phenotype.
Prevalence of MODY2 and MODY3 mutations has been assessed in 23 Brazilian families with MODY phenotype. Mutations in HNF-1alpha have been found in 3 families (13%) and 2 families (8.7%) had new glucokinase mutations. These genes do not explain the majority of MODY cases in Brazilian population.
Furuzawa
Gilberto K
GK
Division of Diabetes, Molecular Endocrinology Laboratory, Federal University of São Paulo, São Paulo, Brazil.
Giuffrida
Fernando M A
FM
Oliveira
Carolina S V
CS
Chacra
Antonio R
AR
Dib
Sergio A
SA
Reis
André F
AF
D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003924:Diabetes Mellitus, Type 2 / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D005091:Exons; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence
C496487:HNF1A protein, human; D051538:Hepatocyte Nuclear Factor 1-alpha; D005941:Glucokinase