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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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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cited_by cdi_FETCH-LOGICAL-c420t-1200c1a21f42b02a29344abfd8538e0c269ffcc503bf0832049e108825160f0c3
cites cdi_FETCH-LOGICAL-c420t-1200c1a21f42b02a29344abfd8538e0c269ffcc503bf0832049e108825160f0c3
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container_title Diabetes research and clinical practice
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creator Giuffrida, Fernando M.A
Calliari, Luis Eduardo
Manna, Thais Della
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Kunii, Ilda S
Furuzawa, Gilberto K
Dias-da-Silva, Magnus R
Reis, Andre F
description 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.
doi_str_mv 10.1016/j.diabres.2013.01.029
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1872-8227
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source ScienceDirect Journals
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
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
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