Genetic and Clinical Data for 40 Congenital Cataract Cases in Southern Chinese Families

Teng Huang's study from 2026 provides genetic analysis and clinical characteristics for 40 probands with congenital cataracts from southern China. The dataset includes results from whole-exome sequencing, identifying pathogenic variants in 15 individuals across 12 genes. It distinguishes between sporadic and familial cases, as well as syndromic and non-syndromic presentations.

Use Cases

• Identify genetic variants associated with congenital cataract based on whole-exome sequencing results.
• Compare genetic profiles between sporadic and familial cataract cases as described in the study.
• Analyze the correlation between specific gene variants (e.g., crystallin genes) and syndromic vs. non-syndromic disease presentation.

Strengths

• Includes genetic data from 40 probands, achieving a molecular diagnostic yield of 37.5%.
• Identifies 15 pathogenic/likely pathogenic variants across 12 genes, with 7 being novel.
• Distinguishes clinical characteristics between syndromic and non-syndromic cases and between sporadic and familial origins.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The 30.2 KB file size suggests a limited scope, likely containing summary tables rather than raw sequencing data.

Provenance

Source

Teng Huang via figshare.

Collection Method

Whole-exome sequencing and Sanger sequencing confirmation performed on a pediatric cataract cohort.

Time Range

null

Freshness

Last updated 2026-03-18 07:46:47; freshness should be verified.

Geography

Southern China.