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

Helen St Clair Tracy presents a longitudinal case report and genotype–phenotype analysis for a rare 13.58 Mb interstitial deletion on chromosome 5. The dataset, shared on figshare under a CC-BY-4.0 license, integrates 16 years of clinical, visual, neurological, and developmental data from a single individual. It was last updated on May 7, 2026.

Use Cases

• Analyzing longitudinal functional outcomes in rare genomic disorders based on the 16-year clinical timeline.
• Investigating the relationship between cerebral visual impairment (CVI) and cognitive/behavioral difficulties as suggested in the description.
• Studying the co-occurrence of periventricular heterotopia (PH) and optic atrophy in NR2F1 haploinsufficiency cases.
• Enhancing genotype–phenotype interpretation for rare disorders using detailed longitudinal assessment data.

Strengths

• Provides a 16-year longitudinal analysis, offering a rare long-term view of a specific genetic disorder.
• Focuses on a detailed single case with a large, precisely defined 13.58 Mb chromosomal deletion.
• Integrates multiple data types: clinical, visual, neurological, and developmental, as mentioned in the description.

Limitations

• Row count is unknown, which may limit suitability assessment; the dataset appears to be a single case report.
• Column-level documentation is absent; field semantics must be inferred from the PDF document after download.
• The dataset's 249.7 KB size indicates it is a document, not a large-scale data collection, limiting statistical analysis.

Provenance

Source

Helen St Clair Tracy, shared via 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 04:45:31