Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy
Raffi Aprahamian1, T Yammine1, N Salem1
1Genetics Unit, Saint Joseph University, Beirut, Lebanon.
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.
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