Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy. (2nd November 2021)

• Record Type: Journal Article
• Authors: Aprahamian, Raffi; Yammine, T.; Salem, N.; Souaid, M.; Mansour, H.; Farra, C.
• Is Part Of: Ophthalmic genetics. Volume 42:Number 6(2021)
• Page Start: 744
• Page End: 746
• Publication Date: 2021-11-02
• Subjects: Infantile cataract -- FYCO1 gene -- whole exome sequencing -- cortical atrophy -- Lebanese; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2021.1955277
• Languages: English
• ISSNs: 1381-6810

Abstract

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.