Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY

Weinert, Leticia S.; Silveiro, Sandra P.; Giuffrida, Fernando M. A.; Cunha, Vivian T.; Bulcao, Caroline; Calliari, Luis Eduardo; Della Manna, Thais; Kunii, Ilda S. [UNIFESP]; Dotto, Renata P. [UNIFESP]; Dias-da-Silva, Magnus R. [UNIFESP]; Reis, Andre F. [UNIFESP]

Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY

Data

2014-11-01

Autores

Weinert, Leticia S.

Silveiro, Sandra P.

Giuffrida, Fernando M. A.

Cunha, Vivian T.

Bulcao, Caroline

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Artigo

Resumo

Thirty-two Brazilian families with MODY phenotype were screened for GCK and HNF1A mutations. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu. Previously described mutations in HNF1A were found in 2 families. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

Citação

Diabetes Research and Clinical Practice. Clare: Elsevier B.V., v. 106, n. 2, p. E44-E48, 2014.