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

Renata P Dotto; Fernando M A Giuffrida; Luciana Franco; Andreia L G Mathez; Leticia S Weinert; Sandra P Silveiro; Joao R Sa; Andre F Reis; Magnus R Dias-da-Silva

doi:10.1016/j.diabres.2016.04.035

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

Diabetes Res Clin Pract. 2016 Jun:116:100-4. doi: 10.1016/j.diabres.2016.04.035. Epub 2016 Apr 26.

Authors

Renata P Dotto¹, Fernando M A Giuffrida², Luciana Franco¹, Andreia L G Mathez¹, Leticia S Weinert³, Sandra P Silveiro³, Joao R Sa⁴, Andre F Reis⁵, Magnus R Dias-da-Silva¹

Affiliations

¹ Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
² Universidade do Estado da Bahia (UNEB), Salvador, Brazil.
³ Endocrinology Unit - Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil.
⁴ Diabetes Center, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
⁵ Laboratory of Molecular and Translational Endocrinology, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil. Electronic address: afreis2005@gmail.com.

PMID: 27321323
DOI: 10.1016/j.diabres.2016.04.035

Abstract

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.

Keywords: Diabetes mellitus; HNF1B; MLPA; MODY; Mutation.

MeSH terms

Adult
Brazil
Case-Control Studies
Central Nervous System Diseases
Dental Enamel / abnormalities
Diabetes Mellitus, Type 2 / diagnosis
Diabetes Mellitus, Type 2 / genetics*
Female
Gene Deletion*
Glucokinase / genetics
Hepatocyte Nuclear Factor 1-alpha / genetics
Hepatocyte Nuclear Factor 1-beta / genetics*
Heterozygote
Humans
Incidental Findings
Kidney Diseases, Cystic
Male
Phenotype

Substances

HNF1A protein, human
Hepatocyte Nuclear Factor 1-alpha
Hepatocyte Nuclear Factor 1-beta
Glucokinase

Supplementary concepts

Renal cysts and diabetes syndrome