Molecular genetics & genomic medicine · 2026
Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian Patients.
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Vitanova Kristiyana, Kamenarova Kunka, Veleva-Krasteva Nevyana, Mihova Kalina, Kaneva Yoanna, Tzveova Reni, Georgiev Martin, Georgiev Delyan, Dimova Ivanka, Oscar Alexander, Kaneva Radka
Аннотация
BACKGROUND: Inherited forms of cataract are a clinically important and genetically heterogeneous cause of visual impairment, usually present at an early age. Both syndromic and non-syndromic congenital cataracts exhibit all modes of inheritance and may occur in association with various ocular or systemic abnormalities. Early diagnosis and treatment are crucial for the visual prognosis.
METHODS: We applied next-generation sequencing (NGS) of clinical exome for identification of the disease-causing variants in a group of seven Bulgarian patients with syndromic and non-syndromic cataracts, accompanied by glaucoma with variable anterior segment defects and other ocular phenotypes.
RESULTS: Systematic filtering pipelines coupled with copy number variation analysis and segregation studies led to the identification of four pathogenic/likely pathogenic changes and two variants of uncertain significance (VUS), three of which were newly found. Candidate disease-causing variants in the CRYAA, CRYBB1, MYH9, RP2, CLNC1, and CACNA1S genes were found, which allowed the establishment of a precise genetic diagnosis of all of the studied pedigrees.
CONCLUSION: Our results confirm the usefulness of a targeted NGS approach based on clinical exome analysis as a comprehensive genetic diagnostic tool for syndromic and isolated cataracts with a significant impact on patient counseling.
METHODS: We applied next-generation sequencing (NGS) of clinical exome for identification of the disease-causing variants in a group of seven Bulgarian patients with syndromic and non-syndromic cataracts, accompanied by glaucoma with variable anterior segment defects and other ocular phenotypes.
RESULTS: Systematic filtering pipelines coupled with copy number variation analysis and segregation studies led to the identification of four pathogenic/likely pathogenic changes and two variants of uncertain significance (VUS), three of which were newly found. Candidate disease-causing variants in the CRYAA, CRYBB1, MYH9, RP2, CLNC1, and CACNA1S genes were found, which allowed the establishment of a precise genetic diagnosis of all of the studied pedigrees.
CONCLUSION: Our results confirm the usefulness of a targeted NGS approach based on clinical exome analysis as a comprehensive genetic diagnostic tool for syndromic and isolated cataracts with a significant impact on patient counseling.