A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families

Fernando M A Giuffrida; Luis Eduardo Calliari; Thais Della Manna; João Guimarães Ferreira; Pedro Saddi-Rosa; Ilda S Kunii; Gilberto K Furuzawa; Magnus R Dias-da-Silva; Andre F Reis

doi:10.1016/j.diabres.2013.01.029

A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families

Diabetes Res Clin Pract. 2013 May;100(2):e42-5. doi: 10.1016/j.diabres.2013.01.029. Epub 2013 Feb 19.

Authors

Fernando M A Giuffrida¹, Luis Eduardo Calliari, Thais Della Manna, João Guimarães Ferreira, Pedro Saddi-Rosa, Ilda S Kunii, Gilberto K Furuzawa, Magnus R Dias-da-Silva, Andre F Reis

Affiliation

¹ Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo, São Paulo, Brazil.

PMID: 23433541
DOI: 10.1016/j.diabres.2013.01.029

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.

MeSH terms

Adolescent
Adult
Aged
Brazil
Child
Diabetes Mellitus, Type 2 / enzymology*
Diabetes Mellitus, Type 2 / genetics*
Female
Glucokinase / genetics*
Humans
Male
Middle Aged
Mutation
Pedigree
Sequence Deletion / genetics
Young Adult

Substances

Glucokinase

Supplementary concepts

Maturity-Onset Diabetes of the Young, Type 2