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July 29, 2026BMC OphthalmologyOpen Access

Variants and genotype-phenotype correlation of CRYBB2 gene in eight Chinese families with congenital cataract and other congenital ocular anomalies

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Authors

HZHaitao ZhangWannan Medical CollegeFTFangyi TianWenzhou Medical UniversityPCPingjun ChangWenzhou Medical University

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Overview

Randomized trial explores CRYBB2 variants impact on cataract outcomes in families, highlighting genetic insights.

Key Points

  • This study aims to establish the link between CRYBB2 gene variants and congenital cataract phenotypes, enhancing genetic counseling.
  • Included 120 families with congenital cataract.
  • Conducted whole exome and Sanger sequencing to identify variants.
  • Performed bioinformatics analysis to evaluate impact on protein structure and function.
  • Identified eight pathogenic or likely pathogenic CRYBB2 variants in eight families, including three novel variants.
  • Associated phenotypes included total cataract, cerulean cataract, and perinuclear cataract.
  • Two patients showed microphthalmia with microcornea; one had microphthalmia and posterior capsule coloboma.

Cite This Study

Zhang et al. (2026) studied this question.

synapsesocial.com/papers/6a69a2a3c8da07d9defa6491https://doi.org/10.1186/s12886-026-05161-5
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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. 2A Novel <i>CRYBB2</i> Splicing Mutation Is Associated With Lens Extracellular Matrix Remodeling and Vascular Alterations in Congenital Cataract2026
  3. 3Identification 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
  4. 4Mutation screening of γ-crystallin gene in congenital cataract patients from North India2026
  5. 5Case Report: Identification of a CRYGD variant in a family with congenital cataract2026