MAP7D3 Gene Mutation Case Report for Hydrocephalus and Optic Nerve Edema

A 2026 case report details a novel frameshift mutation in the MAP7D3 gene identified in a patient with hydrocephalus and optic nerve edema. The report, authored by figshare admin karger and hosted on figshare, includes clinical, radiological, and molecular findings. It discusses the variant's potential functional implications and highlights MAP7D3's role in neurodevelopment.

Use Cases

• Analyze genetic variants associated with hydrocephalus based on the described MAP7D3 mutation
• Study the correlation between specific gene mutations and clinical phenotypes based on the detailed case findings
• Investigate cerebrospinal fluid dynamics and neurodevelopment pathways based on the discussion of MAP7D3's role
• Benchmark genetic sequencing methods for non-syndromic hydrocephalus based on the use of deep exome sequencing

Strengths

• Report is licensed under CC-BY-4.0, allowing for open sharing and reuse
• The description details specific clinical, radiological, and molecular findings from the case
• The report was last updated in April 2026, suggesting recent availability

Limitations

• The dataset is a single case report document (38.9 KB), offering limited scope and sample size
• Column-level documentation is absent; field semantics must be inferred after download
• Row count is unknown, which may limit suitability assessment

Provenance

Source

figshare

Collection Method

Clinical case study using deep exome sequencing

Freshness

Last updated 2026-04-29 05:55:36