NR2F1-Related 5q14.3–q21.1 Deletion: A 16-Year Longitudinal Case Report

A 16-year longitudinal analysis of an individual with a de novo 13.58 Mb interstitial deletion of chromosome 5q14.3 to q21.1 encompassing the NR2F1 gene. The report, authored by Helen St Clair Tracy and shared under a CC-BY-4.0 license on figshare, integrates clinical, visual, neurological, and developmental data. It examines relationships between periventricular heterotopia, cerebral visual impairment, epilepsy, hypotonia, and long-term functional outcomes.

Use Cases

• Conducting genotype-phenotype correlation studies based on longitudinal clinical and developmental data.
• Investigating the role of cerebral visual impairment as a mediating factor in cognitive and behavioral outcomes.
• Analyzing the co-occurrence and progression of features like periventricular heterotopia, epilepsy, and hypotonia over time.

Strengths

• Longitudinal data spanning 16 years for a single case, providing a detailed developmental timeline.
• Focus on a rare 13.58 Mb interstitial deletion, contributing to a sparse literature on large deletions.
• Analysis integrates multiple data domains: clinical, visual, neurological, and developmental.

Limitations

• The dataset is a single case report (N=1), limiting statistical generalizability.
• Data is presented in a 178.4 KB PDF document; structured, machine-readable data is unavailable.
• Column-level documentation and sample data are absent, requiring manual extraction from the report text.

Provenance

Source

figshare

Collection Method

Longitudinal clinical case study and analysis of published literature.

Time Range

Longitudinal study covering 16 years.

Freshness

Last updated 2026-05-07 04:45:30.