Case Report: Identification of a CRYGD variant in a family with congenital cataract
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By
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Junjie Deng
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Jianli Ma
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Yixiao Li
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Wenjing Wang
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Chunli Ma
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Mengxue Li
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Yaqin Jiang
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Han Zhang
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June 10, 2026
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Objective:
To characterize the ocular phenotype of a family with congenital cataract and evaluate the segregation pattern of the identified CRYGD variant.
Approach:
Key Findings:
- The CRYGD c.391T>C (p.Trp131Arg) variant was identified and validated as co-segregating with the disease phenotype in affected family members.
- Additional variants ITM2B c.537C>G (p.Asn179Lys) and ASB10 c.1402T>C (p.Ter468GlnextTer6) showed less consistent segregation patterns.
- The CRYGD variant was classified as a variant of uncertain significance according to ACMG criteria.
Interpretation:
Limitations:
- The proband's mother was not available for sampling, which may limit the completeness of segregation analysis.
- The CRYGD variant remains classified as a variant of uncertain significance, indicating the need for further validation.
Conclusion:
