Identification and Functional Characterization of Mutation in FYCO1 in Families with Congenital Cataract
Muhammad Ikram Ullah,
Zaira Rehman,
Rubina Dad
et al.
Abstract:Congenital cataract (CC) causes a third of the cases of treatable childhood blindness worldwide. CC is a disorder of the crystalline lens which is established as clinically divergent and has complex heterogeneity. This study aimed to determine the genetic basis of CC. Whole blood was obtained from four consanguineous families with CC. Genomic DNA was extracted from the blood, and the combination of targeted and Sanger sequencing was used to identify the causative gene. The mutations detected were analyzed in s… Show more
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