A novel truncating mutation in ZNF469 associated with brittle cornea syndrome in an Indian patient

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.