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

Autor(es):Mostrar menos -

Dotto, Renata P. ^[1] ; de Santana, Lucas Santos ^[2] ; Lindsey, Susan C. ^[1] ; Caetano, Lilian Araujo ^[2] ; Franco, Luciana F. ^[1] ; Moises, Regina Celia M. S. ^[1] ; Sa, Joao R. ^[1] ; Nishiura, Jose Luiz ^[3] ; Teles, Milena Gurgel ^[2] ; Heilberg, Ita P. ^[3] ; Dias-da-Silva, Magnus R. ^[1] ; Giuffrida, Fernando M. A. ^{[1, 4]} ; Reis, Andre F. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Dept Med, Discipline Endocrinol, Sao Paulo, SP - Brazil

^[2] Univ Sao Paulo FMUSP, Grp Diabet Monogen, Unidade Endocrinol Genet LIM25, Fac Med, Sao Paulo, SP - Brazil

^[3] Univ Fed Sao Paulo, Discipline Nefrol, Dept Med, Unifesp, Sao Paulo, SP - Brazil

^[4] Univ Estado Bahia UNEB, Dept Ciencias Vida, Rua Silveira Martins 2555, BR-41150000 Salvador, BA - Brazil

• Tipo de documento: Artigo Científico
• Fonte: ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 63, n. 3, p. 250-257, MAY-JUN 2019.
• Citações Web of Science: 0

Resumo

ABSTRACT 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). (AU)

• Processo FAPESP: 15/05123-9 - Estratificação de risco de doença cardiovascular em pacientes com Diabetes mellitus monogênico tipo MODY
• Beneficiário: André Fernandes Reis
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 13/19920-2 - Estudo genético-molecular por sequenciamento de nova geração de pacientes com diagnóstico clínico de MODY (Maturity onset diabetes of the Young)
• Beneficiário: Milena Gurgel Teles Bezerra
• Modalidade de apoio: Auxílio à Pesquisa - Regular