Unexpected finding of a whole HNF1B gene deletion during the screening of rare MODY types in a series of Brazilian patients negative for GCK and HNF1A mutations

Autor(es)

Dotto, Renata P. ^[1] ; Giuffrida, Fernando M. A. ^[2] ; Franco, Luciana ^[1] ; Mathez, Andreia L. G. ^[1] ; Weinert, Leticia S. ^[3] ; Silveiro, Sandra P. ^[3] ; Sa, Joao R. ^[4] ; Reis, Andre F. ^[1] ; Dias-da-Silva, Magnus R. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo UNIFESP, Lab Mol & Translat Endocrinol, BR-04022001 Sao Paulo, SP - Brazil

^[2] Univ Estado Bahia UNEB, Salvador, BA - Brazil

^[3] Univ Fed Rio Grande do Sul, Hosp Clin Porto Alegre, Endocrinol Unit, Porto Alegre, RS - Brazil

^[4] Univ Fed Sao Paulo UNIFESP, Ctr Diabet, R Estado Israel 639 Vila Mariana, BR-04022001 Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Diabetes Research and Clinical Practice; v. 116, p. 100-104, JUN 2016.
• Citações Web of Science: 4

Resumo

Thirty-two patients with diabetes negative for point mutations in GCK and HNF1A underwent further molecular screening of GCK, HNF1A, HNF4A, and HNF1B by MLPA analysis. We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death. (C) 2016 Elsevier Ireland Ltd. All rights reserved. (AU)

• Processo FAPESP: 15/05123-9 - Estratificação de risco de doença cardiovascular em pacientes com Diabetes mellitus monogênico tipo MODY
• Beneficiário: André Fernandes Reis
• Linha de fomento: Auxílio à Pesquisa - Regular
• 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