Molecular Impact of a Novel HNF1B Missense Variant in Childhood-Onset MODY5

A case report and functional study details a novel de novo HNF1B missense variant (p.Met160Thr) identified in a 12-year-old Japanese patient with MODY5. The 188.0 KB PDF, authored by Chisato Umeda and last updated in May 2026, presents in vitro analyses including electrophoretic mobility shift and luciferase reporter assays. These findings demonstrate the variant's structural alterations, impaired DNA-binding, and reduced transcriptional activity, expanding genotype-phenotype understanding for this rare monogenic diabetes.

Use Cases

• Analyzing the molecular mechanism of a novel HNF1B missense variant based on the described in vitro assays
• Studying genotype-phenotype correlations in MODY5 based on the detailed clinical presentation and functional data
• Investigating haploinsufficiency versus dominant-negative effects in transcription factor variants as described in the report
• Supporting early genetic testing decisions for pediatric diabetes cases based on the case report findings

Strengths

• Includes detailed in vitro functional assays (electrophoretic mobility shift, circular dichroism, luciferase reporter) as described.
• Presents a novel de novo variant with a specific clinical case of a 12-year-old patient.
• Released under a permissive CC-BY-4.0 license for reuse.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is a single 188.0 KB PDF, representing a very limited scope focused on one case.

Provenance

Source

figshare

Collection Method

Case report and laboratory functional study.

Time Range

Study likely reflects data collection prior to 2026 publication.

Freshness

Last updated 2026-05-04 04:24:20; freshness should be verified.

Geography

Case involves a Japanese patient; study location is unknown.