Genetic and Functional Data for Congenital Scoliosis Research

Supporting data from a study exploring the role of planar cell polarity genes CELSR2 and DCHS1 in congenital scoliosis. The dataset likely contains genetic variant information from a cohort of 140 patients and 219 family members, including 78 complete families, and results from in vitro and zebrafish model functional assays. It was authored by Jianan Zhang and last updated on June 1, 2026.

Use Cases

• Identify candidate genetic variants associated with congenital scoliosis based on patient cohort sequencing data.
• Analyze the functional impact of PCP gene variants on protein expression and localization using in vitro assay results.
• Correlate genetic findings with phenotypic outcomes in animal models based on zebrafish morphant data.
• Investigate gene dosage effects on vertebral defect penetrance based on mouse model observations.

Strengths

• Includes data from a defined cohort of 140 patients and 219 family members.
• Links genetic findings to functional validation in zebrafish and mouse models.
• Last updated date is provided (2026-06-01).

Limitations

• Column-level documentation is absent; field semantics must be inferred after download.
• Row count is unknown, which may limit suitability assessment.
• Data may reflect geographic bias inherent to the Hong Kong cohort.

Provenance

Source

figshare

Collection Method

Multi-center cohort study and functional assays.

Geography

Hong Kong