ArticleArchives of endocrinology and metabolism
Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia.
Article in Archives of endocrinology and metabolism. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 12 citations in OpenAlex.
- Maturity-onset diabetes of the young type 3 complicated with type 5: A case report and literature review.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024Review
- Hepatocyte nuclear factor 1B deletion, but not intragenic mutation, might be more susceptible to hypomagnesemia.Journal of diabetes investigation · 2024Article
- Pregnancy outcome with maternalObstetric medicine · 2023Review
- Blood pressure in children with renal cysts and diabetes syndrome.European journal of pediatrics · 2021Article
- Comprehensive genetic screening reveals wide spectrum of genetic variants in monogenic forms of diabetes among Pakistani population.World journal of diabetes · 2021Article
- Update on clinical screening of maturity-onset diabetes of the young (MODY).Diabetology & metabolic syndrome · 2020Review
- Targeted sequencing identifies novel variants in common and rare MODY genes.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo 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).
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