Genetic and Clinical Data for 40 Congenital Cataract Cases in Southern China

A study of 40 probands with congenital cataracts from southern China, analyzed via whole-exome sequencing. The research identified pathogenic or likely pathogenic variants in 15 individuals, involving 12 specific genes. The dataset was authored by Teng Huang and last updated in March 2026.

Use Cases

• Identify genetic variants associated with congenital cataract based on whole-exome sequencing results.
• Compare genetic profiles between sporadic and familial cases of congenital cataract.
• Investigate genotype-phenotype correlations for syndromic versus non-syndromic cataract presentations.
• Prioritize candidate genes for further functional validation based on variant segregation analysis.

Strengths

• Includes data from 40 probands, achieving a molecular diagnostic yield of 37.5%.
• Identifies 15 pathogenic/likely pathogenic variants across 12 specific genes.
• Distinguishes between 6 sporadic and 9 familial cases within the cohort.

Limitations

• Row count and column-level documentation are absent; field semantics must be inferred after download.
• The dataset is very small at 15.6 KB, indicating limited scope.
• Data may reflect geographic bias inherent to the southern Chinese cohort.

Provenance

Source

figshare, authored by Teng Huang.

Collection Method

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

Time Range

null

Freshness

Last updated 2026-03-18 07:46:42; freshness should be verified.

Geography

Southern China