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

A figshare-hosted longitudinal case report details a 16-year analysis of an individual with a de novo 13.58 Mb interstitial deletion of chromosome 5q14.3–q21.1. The report, authored by Helen St Clair Tracy and updated in 2026, integrates clinical, visual, neurological, and developmental data to examine relationships between periventricular heterotopia, cerebral visual impairment, epilepsy, and long-term functional outcomes. The 136.9 KB PDF provides a detailed genotype–phenotype analysis for a rare genomic disorder.

Use Cases

• Conducting genotype–phenotype correlation analysis based on longitudinal clinical and developmental data.
• Studying the progression of cerebral visual impairment and its impact on cognitive and behavioral outcomes over time.
• Investigating the co-occurrence of periventricular heterotopia, epilepsy, and hypotonia in NR2F1-related disorders.
• Analyzing the role of environmental adaptations in revealing latent cognitive capacity in individuals with severe visual impairment.

Strengths

• Provides a 16-year longitudinal analysis, offering a rare long-term view of a specific genomic disorder.
• Integrates multiple data types: clinical, visual, neurological, and developmental, as described in the report.
• Focuses on a specific, rare 13.58 Mb interstitial deletion (5q14.3–q21.1) with a ClinVar accession (SCV007328941).

Limitations

• The dataset is a single-case report (n=1), which limits generalizability and statistical power.
• Row count and column-level documentation are unknown; data structure must be inferred from the PDF narrative.
• The 136.9 KB size indicates a very limited scope, containing detailed narrative rather than a large-scale dataset.

Provenance

Source

figshare

Collection Method

Longitudinal clinical case study and analysis of published literature.

Time Range

Covers a 16-year longitudinal period for the index case.

Freshness

Last updated 2026-05-07 04:45:29.