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
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- 作者：Renata P. Dottoa ; 1 ; Fernando M.A. Giuffridab ; 1 ; Luciana Francoa ; Andreia L.G. Matheza ; Leticia S. Weinertc ; Sandra P. Silveiroc ; Joao R. Sad ; Andre F. Reisa ; afreis2005@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Magnus R. Dias-da-Silvaa
- 关键词：MODY ; Diabetes mellitus ; MLPA ; HNF1B ; Mutation
- 刊名：Diabetes Research and Clinical Practice
- 出版年：2016
- 出版时间：June 2016
- 年：2016
- 卷：116
- 期：Complete
- 页码：100-104
- 全文大小：864 K
文摘
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Thirty-two subjects with a clinical phenotype of MODY have been further evaluated for large deletions using MLPA.
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Mutations in HNF1B have been increasingly recognized as a cause of MODY and can be identified using MLPA analysis.
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Diabetes is similar to that found in transcription-factor MODY, but renal alterations are hallmarks of HNF1B mutations.
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A whole-gene HNF1B deletion was found in one patient with diabetes mellitus and rapidly progressing renal failure.
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We describe the first case of HNF1B-MODY in a Brazilian patient.