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Article

Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy.

Journal of medical genetics - 1 Feb 2023

He Yunqi, Yang Mu, Zhao Rulian, Peng Li, Dai Erkuan, Huang Lulin, Zhao Peiquan, Li Shujin, Yang Zhenglin

Abstract excerpt

BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is an inheritable blinding disorder with clinical and genetic heterogeneity. Heterozygous variants in the CTNNB1 gene have been reported to cause FEVR. However, the pathogenic basis of CTNNB1-associated FEVR has not been fully explored. METHODS: Whole-exome sequencing was performed on the genomic DNA of probands. Dual-luciferase reporter assay, western...

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PMID: 35361685
DOI: 10.1136/jmedgenet-2021-108259

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