21 Novel Pathogenic Variants in a Chinese Osteogenesis Imperfecta Cohort

A Chinese cohort of 77 families with osteogenesis imperfecta was analyzed for genetic variants. Whole exome sequencing identified 79 pathogenic variants, including 21 novel ones, across six OI-associated genes. The dataset was created by Binshan Zhao and last updated on 2026-04-28.

Use Cases

• Identify novel pathogenic variants based on the 21 novel variants discovered.
• Analyze genotype-phenotype correlations based on variant location within the type I collagen domain.
• Support genetic counseling and prenatal diagnosis based on the pathogenic variant spectrum.
• Benchmark variant detection methods based on the 100% detection rate achieved in the cohort.

Strengths

• Includes data from 77 families, achieving a 100% pathogenic variant detection rate.
• Identifies 21 novel pathogenic variants, expanding the known genetic spectrum.
• Provides clinical phenotype data alongside genetic findings for correlation analysis.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is very small (12.9 KB), indicating limited scope.

Provenance

Source

figshare, author Binshan Zhao.

Collection Method

Clinical assessment and whole exome sequencing combined with Sanger sequencing.

Freshness

Last updated 2026-04-28 22:01:35; freshness should be verified.

Geography

China (Chinese families).