Genetic and Clinical Data for Congenital Cataracts in 40 Southern Chinese Families

Southern Chinese families were studied to clarify the genetic basis of congenital cataracts. The dataset contains genetic analysis and clinical characteristics for 40 probands, including 15 individuals with identified pathogenic or likely pathogenic variants. It was authored by Teng Huang and last updated on 2026-03 18.

Use Cases

• Identify genotype-phenotype correlations based on the reported pathogenic variants and clinical presentation.
• Compare genetic profiles between sporadic and familial cases based on the study's classification.
• Prioritize candidate genes for congenital cataract based on the 12 implicated genes reported in the results.
• Assess the diagnostic yield of whole-exome sequencing for congenital cataract based on the reported 37.5% molecular diagnostic rate.

Strengths

• Includes data from 40 probands with congenital cataracts.
• Achieved a molecular diagnostic yield of 37.5%, identifying variants in 15 individuals.
• Reports 7 novel pathogenic/likely pathogenic variants among the 15 detected.
• Distinguishes between syndromic and non-syndromic cataract presentations for genotype-positive patients.

Limitations

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

Provenance

Source

figshare, authored by Teng Huang.

Collection Method

Data gathered via whole-exome sequencing and Sanger sequencing confirmation in a clinical study.

Time Range

null

Freshness

Last updated 2026-03-18 07:46:48; freshness should be verified.

Geography

Southern China