Supplementary Data for a Family Study of MAFA-Related Hyperinsulinism and Diabetes

Supplementary Information for a study of a family where 11 members were affected by hyperinsulinemic hypoglycemia, diabetes, or both. The research identified a heterozygous MAFA variant in 6 family members and used immunohistochemistry to examine pancreatic tissue. The dataset was authored by Evgenia Globa and is licensed under CC-BY-4.0.

Use Cases

• Analyzing genotype-phenotype correlations based on clinical and genetic data from a family cohort.
• Studying sex-dependent clinical patterns in endocrine disorders based on the reported patient demographics.
• Investigating beta-cell pathology based on immunohistochemistry and immunofluorescence results described in the study.

Strengths

• Includes data from a family cohort of 11 affected individuals, providing a multi-case study.
• Combines genetic testing results with clinical, biochemical, and imaging data for a multi-modal analysis.
• The dataset is associated with a peer-reviewed publication submitted to the Journal of the Endocrine Society.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• The description is specific to one family study, which may limit generalizability.

Provenance

Source

figshare

Collection Method

Clinical, biochemical, and imaging data were collected from a family cohort; genetic testing and pancreatic tissue analysis were performed.

Freshness

Last updated 2026-05-28 14:04:20; freshness should be verified.