TP63 Frameshift Mutation Associated with Split-Hand/Foot Malformation

A research document identifies a novel TP63 frameshift mutation (NM_003722; c.2009_2010insA; p.N670Kfs*) linked to split-hand/foot malformation and tooth agenesis. The variant was discovered via whole-exome sequencing from a patient's peripheral blood and validated by Sanger sequencing and bioinformatic analyses. The work was authored by Jie-Yi Long and published on figshare in April 2026.

Use Cases

• Expand the known spectrum of TP63 variants and associated disease phenotypes based on the identified frameshift mutation.
• Support genetic counseling and prenatal diagnosis for families affected by split-hand/foot malformation based on the pathogenic variant analysis.
• Study the functional impact of mutations within the transactivation inhibitory domain of TP63 based on the three-dimensional molecular modeling described.
• Benchmark evolutionary conservation and tolerance analyses for novel genetic variants based on the bioinformatic methods applied.

Strengths

• The document provides a specific pathogenic variant identifier (TP63 frameshift mutation NM_003722; c.2009_2010insA; p.N670Kfs*).
• The research methodology is detailed, including whole-exome sequencing, Sanger verification, conservative analysis, tolerance analysis, and 3D molecular modeling.
• The file is openly licensed under CC-BY-4.0.

Limitations

• The dataset is a 12.5 KB DOCX file, which is a very small document rather than a structured data table.
• Column-level documentation and sample data are unavailable; the content is a research paper summary.
• The data is derived from a single patient case, limiting its statistical scope.

Provenance

Source

figshare, author Jie-Yi Long.

Collection Method

DNA extracted from peripheral blood of a patient with SHFM, followed by whole-exome sequencing and Sanger sequencing.

Freshness

Last updated 2026-04-24 04:22:42.