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Article

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

Ophthalmic genetics - 1 Dec 2021

Aprahamian Raffi, Yammine T, Salem N, Souaid M, Mansour H, Farra C

Abstract excerpt

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...

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PMID: 34282983
DOI: 10.1080/13816810.2021.1955277

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