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.

@article{Dotto2016UnexpectedFO,
  title={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.},
  author={Renata Pires Dotto and Fernando M A Giuffrida and Luciana Ferreira Franco and Andr{\'e}ia Latanza Gomes Mathez and Let{\'i}cia Schwerz Weinert and Sandra Pinho Silveiro and Jo{\~a}o Roberto de S{\'a} and Andre F Reis and Magnus R Dias-da-Silva},
  journal={Diabetes research and clinical practice},
  year={2016},
  volume={116},
  pages={
          100-4
        }
}
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. 

Citations

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