A novel truncating mutation in ZNF469 associated with brittle cornea syndrome in an Indian patient
Year: 2024
Type: article
Study design: Case Report
Abstract: Brittle cornea syndrome (BCS) is a rare autosomal recessive disorder with a dramatic ocular phenotype characterized by corneal fragility and thinning. This report describes a novel zinc finger 469 ( ZNF469 ) gene mutation c.7760G>A in the homozygous state resulting in a premature termination (p. Trp2587Ter) in a 6-year-old boy clinically diagnosed with BCS. The parents, heterozygous carriers of the truncating mutation, were devoid of ophthalmic complications. However, the father had sensorineural deafness . ZNF469 regulates extracellular matrix components affecting fibrillar collagen. In line with previous literature, the present study shows deleterious mutation of ZNF469 underlying BCS.
Language: English
Subfield: Ophthalmology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4396520232