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Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia

Dotto, Renata P ; Santana, Lucas Santos de ; Lindsey, Susan C ; Caetano, Lilian Araújo ; Franco, Luciana F ; Moisés, Regina Célia M S ; Sa, João R ; Nishiura, José Luiz ; Teles, Milena Gurgel ; Heilberg, Ita P ; Dias-da-Silva, Magnus R ; Giuffrida, Fernando M A ; Reis, André F

Archives of Endocrinology and Metabolism, 2019-05, Vol.63 (3), p.250-257

Brazil: Sociedade Brasileira de Endocrinologia e Metabologia

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Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia
Autor: Dotto, Renata P ; Santana, Lucas Santos de ; Lindsey, Susan C ; Caetano, Lilian Araújo ; Franco, Luciana F ; Moisés, Regina Célia M S ; Sa, João R ; Nishiura, José Luiz ; Teles, Milena Gurgel ; Heilberg, Ita P ; Dias-da-Silva, Magnus R ; Giuffrida, Fernando M A ; Reis, André F
Assuntos: Adult ; Brazil ; Cohort Studies ; diabetes ; Diabetic Nephropathies - complications ; Diabetic Nephropathies - genetics ; Gene Deletion ; Hepatocyte Nuclear Factor 1-beta - genetics ; HNF1B ; Humans ; Hyperglycemia - complications ; Hyperglycemia - genetics ; Kidney Diseases, Cystic - complications ; Kidney Diseases, Cystic - genetics ; Middle Aged ; MODY ; monogenic diabetes ; Mutation ; Original ; Phenotype ; Polymorphism, Genetic - genetics
É parte de: Archives of Endocrinology and Metabolism, 2019-05, Vol.63 (3), p.250-257
Notas: Disclosure: no potential conflict of interest relevant to this article was reported.
Descrição: To verify the presence of variants in HNF1B in a sample of the Brazilian population selected according to the presence of renal cysts associated with hyperglycemia. We evaluated 28 unrelated patients with clinical suspicion of HNF1B mutation because of the concomitant presence of diabetes mellitus (DM) or prediabetes and renal cysts. Genotyping was accomplished using Sanger sequencing or multiplex ligation-dependent probe amplification (MLPA). In positive cases, available relatives were recruited. We found two patients with HNF1B mutations. The first presented the variant p.Pro328Leufs*48(c.983delC) and had DM, renal cysts, and hypomagnesemia. The second presented a heterozygous whole gene deletion in HNF1B, DM, renal cysts, body and tail pancreatic agenesis, and hypomagnesemia; this alteration was also found in his two siblings and his father. The recruitment of suspected cases of HNF1B gene mutations in Brazilians due to hyperglycemia and renal cysts presents two positive cases. Our cases contribute to the annotation of clinical and biochemical phenotypes of this rare form of maturity-onset diabetes of the young (MODY).
Editor: Brazil: Sociedade Brasileira de Endocrinologia e Metabologia
Idioma: Inglês

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Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia

Dotto, Renata P ; Santana, Lucas Santos de ; Lindsey, Susan C ; Caetano, Lilian Araújo ; Franco, Luciana F ; Moisés, Regina Célia M S ; Sa, João R ; Nishiura, José Luiz ; Teles, Milena Gurgel ; Heilberg, Ita P ; Dias-da-Silva, Magnus R ; Giuffrida, Fernando M A ; Reis, André F

Brazil: Sociedade Brasileira de Endocrinologia e Metabologia

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