Case Report and Genetic Analysis of a Novel EDA Variant in a Four-Generation Pedigree

A 2026 case report from figshare details a novel pathogenic EDA gene variant (c.916delC) identified in a four-generation family. The study includes clinical phenotype assessments and medical histories for 17 family members, linking the variant to fatal pneumonia in a male infant. The author is Huan Liu, and the data is shared under a CC-BY-4.0 license.

Use Cases

• Study genotype-phenotype segregation based on the detailed four-generation pedigree analysis
• Analyze the pathological basis of fatal pneumonia based on the described underdeveloped respiratory mucosal glands and thermoregulatory instability
• Investigate the spectrum of pathogenic EDA variants based on the identification of the novel c.916delC frameshift mutation

Strengths

• Includes detailed clinical phenotype assessment for 17 members across four generations, providing familial context.
• Presents a novel pathogenic EDA variant (c.916delC), expanding the known genetic variation for the disorder.
• Combines genetic sequencing results with imaging and pathogen evidence from a specific fatal case.

Limitations

• The dataset is a single 106.1 KB PDF case report, representing a very limited scope and scale.
• Row count and column-level documentation are absent; data semantics must be inferred from the narrative text.
• Description metadata is limited; actual data quality and structure require manual inspection after download.

Provenance

Source

figshare, author Huan Liu

Collection Method

Clinical case study involving whole exome sequencing, Sanger sequencing, and family medical history collection.

Freshness

Last updated 2026-06-03 06:02:07