Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with clinical MODY phenotype

Gilberto K Furuzawa; Fernando M A Giuffrida; Carolina S V Oliveira; Antonio R Chacra; Sergio A Dib; André F Reis

doi:10.1016/j.diabres.2008.06.011

Low prevalence of MODY2 and MODY3 mutations in Brazilian individuals with clinical MODY phenotype

Diabetes Res Clin Pract. 2008 Sep;81(3):e12-4. doi: 10.1016/j.diabres.2008.06.011. Epub 2008 Jul 30.

Authors

Gilberto K Furuzawa¹, Fernando M A Giuffrida, Carolina S V Oliveira, Antonio R Chacra, Sergio A Dib, André F Reis

Affiliation

¹ Division of Diabetes, Molecular Endocrinology Laboratory, Federal University of São Paulo, São Paulo, Brazil.

PMID: 18672310
DOI: 10.1016/j.diabres.2008.06.011

Abstract

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.

MeSH terms

Adolescent
Adult
Amino Acid Substitution
Brazil / epidemiology
Child
Child, Preschool
Diabetes Mellitus, Type 2 / classification
Diabetes Mellitus, Type 2 / epidemiology
Diabetes Mellitus, Type 2 / genetics*
Exons
Female
Glucokinase / genetics*
Hepatocyte Nuclear Factor 1-alpha / genetics*
Humans
Male
Mutation*
Phenotype
Polymorphism, Single Nucleotide
Prevalence

Substances

HNF1A protein, human
Hepatocyte Nuclear Factor 1-alpha
Glucokinase