Supplementary file 1_Genotype-phenotype correlations in EPCAM-associated congenital tuftin

150 molecularly confirmed cases of congenital tufting enteropathy were analyzed to assess the impact of EPCAM variant types on disease severity. The dataset, authored by Liqian Zhao and last updated in May 2026, is a 28.4 KB document containing a systematic review and case report. It reports a significant association between truncating variants and dependency on total parenteral nutrition.

Use Cases

• Assessing the association between EPCAM variant types and clinical outcomes based on the reported odds ratios.
• Investigating the geographic distribution of truncating variants, which were enriched in the Eastern Mediterranean Region.
• Supporting early risk stratification for nutritional management in CTE patients based on the genotype findings.
• Validating the reported correlation between truncating variants and severe intestinal failure in future prospective studies.

Strengths

• Includes a systematic review of 150 molecularly confirmed cases, providing a pooled cohort for analysis.
• Reports specific statistical findings, including an odds ratio of 2.37 for TPN dependency associated with truncating variants.
• Released under a CC-BY-4.0 license, permitting open sharing and adaptation.

Limitations

• The dataset is a 28.4 KB document; the underlying structured data (e.g., patient-level records) is not directly available.
• Column-level documentation is absent; field semantics must be inferred from the document text.
• Row count for the underlying case data is unknown, which may limit suitability assessment.

Provenance

Source

figshare

Collection Method

Systematic review of previously published molecularly confirmed cases and a new case report.

Freshness

Last updated 2026-05-21 05:42:12; freshness should be verified.

Geography

Global, with noted geographic enrichment of truncating variants in the Eastern Mediterranean Region.