Supplementary Material for: Novel Compound Heterozygous Variants in CDH3 Cause Congenital

A 2026 case report from figshare provides longitudinal imaging and functional validation for a patient with a rare genetic disorder. The 726.6 KB PDF documents an 18-year-old male patient with novel compound heterozygous variants in the CDH3 gene, leading to hypotrichosis with juvenile macular dystrophy (HJMD). It includes results from whole exome sequencing, a minigene splice assay, and structural modeling.

Use Cases

• Study disease progression in HJMD based on longitudinal multimodal imaging documentation mentioned in the description
• Analyze the functional impact of intronic splicing variants based on the minigene splice assay results described
• Model structural disruptions in P-cadherin based on the described missense variant and hydrogen bond analysis
• Benchmark genetic diagnostic workflows for rare disorders based on the case presentation of novel compound heterozygous variants

Strengths

• Includes functional validation via a minigene splice assay, as described
• Provides longitudinal imaging documentation over two years, showing disease progression
• Released under a CC-BY-4.0 license, permitting open reuse
• Focuses on novel genetic variants, contributing to a rare disease knowledge base

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 a single case report (726.6 KB), representing a very limited sample size

Provenance

Source

figshare

Collection Method

Clinical case study involving whole exome sequencing, multimodal imaging, and laboratory functional assays.

Time Range

Covers an 8-year period of vision loss and a 2-year documented imaging progression for the reported patient.

Freshness

Last updated 2026-04-24 07:55:36; freshness should be verified

Geography

Patient is reported as Chinese; specific location is unknown.