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Updated: Jun 1, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
A novel hepatocyte nuclear factor-1β (MODY 5) gene mutation in a Romanian boy with pancreatic calcifications, renal
P Banin1, M Giovannini, F Raimondi
1Departmentes of Growth and Reproduction- Azienda Ospedaliera Universitaria, Ferrara, Italy.
Abstract:
We report a 12-years-old Romanian boy with a diagnosis of diabetes and renal insufficiency. Mutations in homeodomain-containing transcription factor hepatocyte nuclear factor (HNF-1β) have been reported in association with maturity-onset diabetes of the young (MODY 5) and early maturity-onset diabetes, progressive non-diabetic renal dysfunction and bilateral renal cysts. We found a new heterozygous mutation in HFN-1β located in the exon 3 (c.715 G>C; p.239R) associated to pancreatic calcifications. The importance of molecular diagnosis of MODY patients is reinforced and the need for a careful follow-up is stressed in order to monitor the progression of clinical manifestations and its correlation with the gene mutation.
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