A Novel ANK1 Gene Mutation Associated with Hereditary Spherocytosis: A Case Report

A Chinese case report describing a novel ANK1 gene mutation (c.2388 +2T > A) identified in an 8-year-old patient with hereditary spherocytosis. The report, authored by Mingqian Lai and shared under a CC-BY-4.0 license, details the clinical presentation, laboratory findings, and genetic analysis. It was last updated on 2026-05-29.

Use Cases

• Identify novel pathogenic mutations based on whole-exome sequencing results described in the report.
• Study genotype-phenotype correlations in hereditary spherocytosis based on the detailed clinical case description.
• Analyze splice-site mutations and their predicted effects on protein function based on the ANK1 variant described.
• Review diagnostic criteria and laboratory findings for hereditary spherocytosis as outlined in the case presentation.

Strengths

• The report describes a specific, novel pathogenic mutation (c.2388 +2T > A) in the ANK1 gene.
• It includes detailed clinical and laboratory findings for a single patient case, including physical exam and genetic test results.
• The dataset is openly licensed under CC-BY-4.0.

Limitations

• The dataset is a single case report PDF (75.5 KB), representing a very limited scope of one patient.
• Row count and column-level documentation are absent; the data is embedded in narrative text.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare

Collection Method

Clinical case report and genetic analysis.

Freshness

Last updated 2026-05-29 06:11:38; freshness should be verified.

Geography

China