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Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.

Molecular genetics & genomic medicine - 1 Aug 2022

Saleem Rani Saira, Siddiqui Sorath Noorani, Irshad Saba, Ashraf Naeem Mahmood, Hamid Arslan, Khan Muhammad Azmat Ullah, Khan Muhammad Imran, Micheal Shazia

Abstract excerpt

BACKGROUND: Congenital cataract is causing one-third of blindness worldwide. Congenital cataract is heterogeneous in its inheritance patterns. The current study is aimed to explore the unknown genetic causes underlying congenital cataracts. METHODS: Blood samples from affected and normal individuals of n = 25 Pakistani families identified with congenital cataracts were collected. Genomic DNA was extracted and...

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PMID: 35638468
DOI: 10.1002/mgg3.1985
PMCID: PMC9356559

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