Identification of a novel nonsense variant in gene associated with infantile cataract and cortical atrophy.

INTRODUCTION

Cataract is a major condition characterized by ocular lens opacification, resulting from alteration in the lens architecture, lens proteins or both. It is responsible for about one-third of infants' blindness worldwide. Variants in the gene have been associated with autosomal recessive infantile cataract.

MATERIAL AND METHODS

We conducted whole exome sequencing (WES) in a nine months old male patient who was referred for genetic investigation because of infantile cataract. WES analysis revealed the presence of a homozygous pathogenic variant (c.2365C>T) in exon 8 of the gene.

RESULTS AND DISCUSSION

This is the first report on a Lebanese infant with infantile cataract and cortical atrophy which was not previously reported, resulting from a novel homozygous variant; thus expanding the clinical phenotypic spectrum of involvement.