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

A longitudinal case report and genotype–phenotype analysis of a rare 13.58 Mb interstitial deletion on chromosome 5q14.3–q21.1 encompassing the NR2F1 gene. The dataset, authored by Helen St Clair Tracy and published on figshare in 2026, integrates 16 years of clinical, visual, neurological, and developmental data from a single individual. 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.
• Analyzing the progression and interplay of neurological features like epilepsy and hypotonia over a 16-year period.
• Investigating the role of cerebral visual impairment as a mediating factor for cognitive and behavioral difficulties.
• Comparing case findings with published literature to assess the recurrence of features like periventricular heterotopia.

Strengths

• Longitudinal data spanning 16 years provides a detailed view of disease progression.
• Integrates multiple data types: clinical, visual, neurological, and developmental.
• Includes a specific, large (13.58 Mb) genomic deletion case with a ClinVar accession (SCV007328941).
• Published under a permissive CC-BY-4.0 license for reuse.

Limitations

• Dataset is a single-case report, limiting statistical power and generalizability.
• The primary data format is a 360.8 KB PDF; underlying structured data (rows/columns) is unavailable.
• Row count and column-level documentation are unknown, requiring manual inspection of the document.

Provenance

Source

figshare

Collection Method

Longitudinal clinical case study and literature analysis.

Time Range

Longitudinal data covers a 16-year period (specific years not stated).

Freshness

Last updated 2026-05-07 04:45:28.