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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2013-05-01
Autores
Giuffrida, Fernando M. A. [UNIFESP]
Calliari, Luis Eduardo
Della Manna, Thais
Ferreira, Joao Guimaraes [UNIFESP]
Saddi-Rosa, Pedro [UNIFESP]
Kunii, Ilda S. [UNIFESP]
Furuzawa, Gilberto K. [UNIFESP]
Dias-da-Silva, Magnus R. [UNIFESP]
Reis, Andre F. [UNIFESP]
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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. (C) 2013 Elsevier Ireland Ltd. All rights reserved.
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Diabetes Research and Clinical Practice. Clare: Elsevier B.V., v. 100, n. 2, p. E42-E45, 2013.