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Updated: Jun 22, 2025
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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Brittle cornea syndrome: A novel mutation
Xingchen Geng1, Lei Zhu1, Jingguo Li1
1Henan Eye Hospital, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou 450003, China.
Heliyon
|July 4, 2024
Summary
A novel ZNF469 gene mutation (c.1781C>T:p.P594L) was identified in a patient with brittle cornea syndrome. This finding expands the known genetic causes of this rare inherited eye disorder.
Area of Science:
- Ophthalmology
- Genetics
- Corneal Diseases
Background:
- Brittle cornea syndrome (BCS) is a rare inherited disorder characterized by severe corneal fragility.
- Mutations in the ZNF469 gene have been previously linked to BCS, but the spectrum of mutations is not fully elucidated.
Observation:
- A 64-year-old male patient presented with progressive vision loss, ocular irritation, and corneal opacities.
- Confocal microscopy revealed significant stromal abnormalities in the affected cornea.
- The patient's son, however, was asymptomatic.
Findings:
- Genetic analysis revealed a novel heterozygous missense mutation, c.1781C>T:p.P594L, in the ZNF469 gene in the affected patient.
- This specific mutation was absent in the asymptomatic son, suggesting its causative role.
Implications:
- This case expands the genotypic spectrum of ZNF469 mutations associated with brittle cornea syndrome.
- Identification of this novel mutation aids in understanding the molecular mechanisms underlying BCS.
- Genetic testing for ZNF469 variants can aid in the diagnosis and genetic counseling of patients with suspected BCS.
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