Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia
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Citações na Scopus
11
Tipo de produção
article
Data de publicação
2019
Editora
SBEM-SOC BRASIL ENDOCRINOLOGIA & METABOLOGIA
Indexadores
Título da Revista
ISSN da Revista
Título do Volume
Autores
DOTTO, Renata P.
LINDSEY, Susan C.
FRANCO, Luciana F.
MOISES, Regina Celia M. S.
SA, Joao R.
NISHIURA, Jose Luiz
HEILBERG, Ita P.
Autor de Grupo de pesquisa
Editores
Coordenadores
Organizadores
Citação
ARCHIVES OF ENDOCRINOLOGY METABOLISM, v.63, n.3, p.250-257, 2019
Resumo
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).
Palavras-chave
HNF1B, MODY, monogenic diabetes, diabetes
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