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Genetic anomalies in congenital cataract
Author(s) -
BremondGignac D.,
Burin des Roziers C.,
Beugnet C.,
Fourrage C.,
Moriniere V.,
Robert M.,
Valleix S.
Publication year - 2017
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2017.03163
Subject(s) - sanger sequencing , genetics , dna sequencing , medicine , phenotype , biology , iris (biosensor) , bioinformatics , computational biology , ophthalmology , gene , computer science , computer security , biometrics
Summary Developmental anomalies of the anterior segment of the eye encompasse a spectrum of disorders affecting the cornea, iris, lens, ciliary body, and/or the trabecular meshwork. Besides, nonsyndromic congenital cataract ( CC ) is a common cause of visual disability in children. All these genetic disorders are highly clinically and genetically heterogeneous, making challenging a proper diagnosis based solely on a phenotype‐based approach. We develop a genotype‐based approach by using a targeted Next‐Generation Sequencing panel including 50 known genes. A cohort of 150 French index patients were recruited after detailed ophthalmic examination. All exons of the 50 genes were amplified using the kit TrueSeq Custom Amplicon ( TSCA , Illumina). The subsequent amplified libraries were sequenced using a MiSeq (Illumina, Inc, San Diego, CA , USA ) sequencer. All pathogenic variants were confirmed by Sanger sequencing, and familial analyses were performed. A large spectrum of molecular defects were identified with numerous novel variants. This NGS approach is an efficient tool to improve molecular diagnosis, and provides insight into the genotype‐phenotype correlation of all these ocular disorders in a cost‐effective way.