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

40 probands with congenital cataract from southern Chinese families were analyzed via whole-exome sequencing. The study, authored by Teng Huang and updated in March 2026, identified pathogenic or likely pathogenic variants in 15 individuals (37.5%), involving 12 genes and including 7 novel variants.

Use Cases

• Identify genotype-phenotype correlations based on clinical characteristics and variant data.
• Compare genetic profiles between sporadic and familial congenital cataract cases.
• Prioritize candidate genes for congenital cataract based on the 12 implicated genes.
• Assess the diagnostic yield of whole-exome sequencing for genetically heterogeneous conditions.

Strengths

• Includes data from 40 probands, providing a defined cohort size.
• Achieved a molecular diagnostic yield of 37.5%, a specific performance metric.
• Identified variants in 12 specific genes, including 7 novel ones.

Limitations

• Row count and column-level documentation are unknown, limiting suitability assessment.
• Data is limited to 40 families from southern China, which may affect generalizability.
• The description notes limitations of WES compared to whole-genome sequencing.

Provenance

Source

figshare, author 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 07:46:43

Geography

Southern China