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June 14, 2026Frontiers in MedicineOpen Access

Case Report: Identification of a CRYGD variant in a family with congenital cataract

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Authors

JDJunjie DengJMJianli MaYLYixiao Li

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Overview

Case report identifies a CRYGD variant in a family with congenital cataract, suggesting genetic links.

Key Points

  • This report aims to identify genetic variants associated with congenital cataract in a family.
  • Performed comprehensive ophthalmic examinations in a family with congenital cataract.
  • Conducted whole-exome sequencing to identify candidate variants.
  • Validated variants through Sanger sequencing and assessed segregation in family members.
  • Identified CRYGD c.391T>C (p.Trp131Arg) variant in all affected family members, confirming segregation.
  • Documented other candidate variants (ITM2B c.537C>G and ASB10 c.1402T>C) with inconsistent segregation.
  • Classified CRYGD variant as uncertain significance according to ACMG criteria.

Cite This Study

Deng et al. (2026) studied this question.

synapsesocial.com/papers/6a2e44a3b1cc60ccdea8a24bhttps://doi.org/10.3389/fmed.2026.1778174
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Identification of 4 Novel Variants in 19 Families with Congenital Cataracts2024
  2. 2Identification of Two Novel Variants in <i>CRYGD</i> and <i>OCRL</i> Genes in the Chinese Population With Hereditary Congenital Cataracts Using Whole Exome Sequencing2026
  3. 3Mutation screening of γ-crystallin gene in congenital cataract patients from North India2026
  4. 4Variants and genotype-phenotype correlation of CRYBB2 gene in eight Chinese families with congenital cataract and other congenital ocular anomalies2026
  5. 5Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients2026