Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy.
Ophthalmic Genet
; 42(6): 744-746, 2021 12.
Article
in En
| MEDLINE
| ID: mdl-34282983
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 ANDMETHODS:
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 ANDDISCUSSION:
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cataract
/
Codon, Nonsense
/
Lens Cortex, Crystalline
/
Microtubule-Associated Proteins
/
Mutation
Type of study:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Ophthalmic Genet
Year:
2021
Document type:
Article