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

Autor(es):Mostrar menos -

Weinert, Leticia S. ^[1] ; Silveiro, Sandra P. ^[1] ; Giuffrida, Fernando M. A. ^{[2, 3]} ; Cunha, Vivian T. ^[1] ; Bulcao, Caroline ^[2] ; Calliari, Luis Eduardo ^[4] ; Della Manna, Thais ^[5] ; Kunii, Ilda S. ^[6] ; Dotto, Renata P. ^[6] ; Dias-da-Silva, Magnus R. ^[6] ; Reis, Andre F. ^{[6, 7]}

Afiliação do(s) autor(es)

^[1] Univ Fed Rio Grande Sul UFRGS, Postgrad Fellowship Program Endocrinol, Hosp Clin Porto Alegre, Endocrinol Unit, Porto Alegre, RS - Brazil

^[2] Ctr Endocrinol Estado Bahia CEDEBA, Salvador, BA - Brazil

^[3] Univ Estado Bahia UNEB, Salvador, BA - Brazil

^[4] Santa Casa Misericordia, Pediat Endocrinol Unit, Sao Paulo - Brazil

^[5] Univ Sao Paulo, Hosp Clin, Inst Crianca, BR-05508 Sao Paulo - Brazil

^[6] Univ Fed Sao Paulo UNIFESP, Lab Mol & Translac Endocrinol, BR-04022001 Sao Paulo - Brazil

^[7] Univ Fed Sao Paulo UNIFESP, Ctr Diabet, BR-04022001 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Diabetes Research and Clinical Practice; v. 106, n. 2, p. E44-E48, NOV 2014.
• Citações Web of Science: 5

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. (AU)

• Processo FAPESP: 11/20747-8 - Investigação clínica, bioquímica e molecular da paralisia periódica tirotóxica
• Beneficiário: Magnus Régios Dias da Silva
• Linha de fomento: Auxílio à Pesquisa - Regular