Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy

ABSTRACT

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 FYCO1 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 FYCO1 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 FYCO1 variant; thus expanding the clinical phenotypic spectrum of FYCO1 involvement.

KEYWORDS:

• Infantile cataract
• FYCO1 gene
• whole exome sequencing
• cortical atrophy
• Lebanese

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.