Data Sheet 1_Genetic heterogeneity correlated with phenotypic variability in 6 Chinese fam

A research document details genetic and clinical findings from six Chinese families with Alport syndrome. The study identified seven genetic variants, including four novel pathogenic changes, through whole exome and Sanger sequencing. The document, authored by Jinghan Gao and last updated in June 2026, includes results from in vitro functional studies on a novel variant.

Use Cases

• Identify novel pathogenic variants in Alport syndrome based on the seven genetic variants described.
• Analyze genotype-phenotype correlations based on the clinical features and inheritance patterns mentioned.
• Support prenatal diagnostic efforts based on the expanded genotype-phenotype spectrum discussed.

Strengths

• Includes functional study results (mRNA expression, cell migration) for a novel variant.
• Identifies seven specific genetic variants across six families, including four novel changes.
• Released under a permissive CC-BY-4.0 license for reuse.

Limitations

• The dataset is a 14.9 KB DOCX file, indicating a very limited textual scope rather than a structured data table.
• Column-level documentation and sample data are unavailable, requiring manual inspection after download.
• Row count is unknown, which may limit suitability assessment for computational analysis.

Provenance

Source

figshare

Collection Method

Genetic variants were screened by whole exome sequencing followed by verification with Sanger sequencing.

Freshness

Last updated 2026-06-04 22:01:28; freshness should be verified.

Geography

Data is from Chinese families.