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 p...

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Bibliographic Details
Published in:Diabetes research and clinical practice 2013-05, Vol.100 (2), p.e42-e45
Main Authors: Giuffrida, Fernando M.A, Calliari, Luis Eduardo, Manna, Thais Della, Ferreira, João Guimarães, Saddi-Rosa, Pedro, Kunii, Ilda S, Furuzawa, Gilberto K, Dias-da-Silva, Magnus R, Reis, Andre F
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Brazil
Child
Diabetes Mellitus, Type 2 - enzymology
Diabetes Mellitus, Type 2 - genetics
Endocrinology & Metabolism
Female
Glucokinase
Glucokinase - genetics
Humans
Male
Middle Aged
MODY
Monogenic diabetes
Mutation
Pedigree
Sequence Deletion - genetics
Young Adult
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Summary: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.
ISSN:0168-8227
1872-8227
DOI:10.1016/j.diabres.2013.01.029