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Article

A Novel Mutation in the FYCO1 Gene Causing Congenital Cataract: Case Study of a Chinese Family.

Disease markers - 1 Jan 2022

Mei Shuping, Lin Jingwei, Liu Zhen, Li Cheng

Abstract excerpt

Congenital cataract is the most important global cause of visual impairment in children. Autosomal dominant and autosomal recessive inheritance account for the majority of the hereditary nonsyndromic congenital cataract. The function of FYCO1 gene is to guide the transport of the microtubule-directed vesicles. Mutations in the FYCO1 gene may cause cataracts. We reported a novel nonsense mutation in FYCO1 (c.1411C...

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Identifiers

PMID: 36061348
DOI: 10.1155/2022/5838104
PMCID: PMC9439885

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