Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia
| Autor: | Renata P. Dotto, Regina S. Moisés, Fernando M. A. Giuffrida, José Luiz Nishiura, Lílian Araújo Caetano, Milena Gurgel Teles, Ita Pfeferman Heilberg, Magnus R. Dias-da-Silva, Lucas Santos de Santana, André F. Reis, Joao R. Sa, Luciana Ferreira Franco, Susan C. Lindsey |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Adult
medicine.medical_specialty HNF1B Endocrinology Diabetes and Metabolism lcsh:Medicine 030209 endocrinology & metabolism medicine.disease_cause Gastroenterology lcsh:Diseases of the endocrine glands. Clinical endocrinology Hypomagnesemia Cohort Studies 03 medical and health sciences symbols.namesake 0302 clinical medicine Internal medicine Diabetes mellitus medicine Humans Diabetic Nephropathies Prediabetes Multiplex ligation-dependent probe amplification Genotyping Hepatocyte Nuclear Factor 1-beta Sanger sequencing Mutation Polymorphism Genetic lcsh:RC648-665 diabetes business.industry lcsh:R Kidney Diseases Cystic Middle Aged medicine.disease Phenotype Hyperglycemia 030220 oncology & carcinogenesis MODY monogenic diabetes symbols business Brazil Gene Deletion |
| Zdroj: | Archives of Endocrinology and Metabolism v.63 n.3 2019 Arquivos de Endocrinologia e Metabolismo Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) instacron:SBEM Archives of Endocrinology and Metabolism, Issue: ahead, Published: 02 MAY 2019 Archives of Endocrinology and Metabolism, Volume: 63, Issue: 3, Pages: 250-257, Published: 02 MAY 2019 Archives of Endocrinology and Metabolism, Iss 0 (2019) |
| Popis: | Objective 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. Subjects and methods 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. Results 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. Conclusion 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). |
| Databáze: | OpenAIRE |
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