Table 1_21 novel pathogenic variants identified in a cohort of 77 Chinese families with os

A 100% detection rate for pathogenic variants was achieved in 77 Chinese families with clinically suspected osteogenesis imperfecta. The dataset includes 79 total variants, 21 of which are novel, identified across six OI-associated genes. Binshan Zhao published this clinical and genetic analysis on figshare in 2026 to expand the pathogenic variant spectrum for precise genetic counseling.

Use Cases

• Identify novel pathogenic variants based on whole exome sequencing results from a Chinese OI cohort.
• Analyze genotype-phenotype correlations based on variant location within the type I collagen domain.
• Support genetic counseling and prenatal diagnosis based on the expanded spectrum of pathogenic variants.

Strengths

• Includes data from 77 families, achieving a 100% pathogenic variant detection rate.
• Identifies 21 novel pathogenic variants, representing 26.6% of the 79 total variants found.
• Clinical assessments include physical exams, X-ray imaging, and bone mineral density testing.

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• Data is specific to a Chinese cohort, which may limit generalizability to other populations.

Provenance

Source

figshare, author Binshan Zhao.

Collection Method

Whole exome sequencing combined with Sanger sequencing on clinically suspected patients.

Freshness

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

Geography

China