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June 28, 2026Molecular Genetics & Genomic MedicineOpen Access

Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients

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Authors

KVK. VitanovaKKKunka KamenarovaNVNevyana Veleva-Krasteva

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Overview

Randomized trial identifies genetic variants in Bulgarian patients with inherited cataracts, suggesting targeted diagnostic approaches.

Key Points

  • The study aims to identify genetic causes of inherited cataracts and related ocular phenotypes in Bulgarian patients.
  • Utilized next-generation sequencing (NGS) of clinical exome for genetic variant identification.
  • Analyzed a group of seven Bulgarian patients with syndromic and non-syndromic cataracts and related ocular issues.
  • Employed filtering pipelines and copy number variation analysis for variant classification.
  • Identified four pathogenic/likely pathogenic variants and two variants of uncertain significance (VUS).
  • Discovered new variants in genes CRYAA, CRYBB1, MYH9, RP2, CLNC1, and CACNA1S.
  • Provided precise genetic diagnoses for all studied pedigrees.

Cite This Study

Vitanova et al. (2026) studied this question.

synapsesocial.com/papers/6a40bb4561bb0a67205c6d0bhttps://doi.org/10.1002/mgg3.70255
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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. 2Variants and genotype-phenotype correlation of CRYBB2 gene in eight Chinese families with congenital cataract and other congenital ocular anomalies2026
  3. 3Case Report: Identification of a CRYGD variant in a family with congenital cataract2026
  4. 4Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations2024 · 3 citations
  5. 5Candidate Genes for Non-Syndromic Pediatric Cataracts2026