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

Archives of Endocrinology and Metabolism

关键词: HNF1B;    MODY;    monogenic diabetes;    diabetes;   

DOI  :  10.20945/2359-3997000000138

来源: DOAJ

【 摘 要 】

ABSTRACTObjectiveTo 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 methodsWe 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.ResultsWe 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.ConclusionThe 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).

【 授权许可】

Unknown