Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.

doi:10.1002/mgg3.1542

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Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.

Molecular genetics & genomic medicine - 1 Jan 2021

Rossetti Linda Z, Bekheirnia Mir Reza, Lewis Andrea M, Mefford Heather C, Golden-Grant Katie, Tarczy-Hornoch Kristina, Briere Lauren C, Sweetser David A, Walker Melissa A, Kravets Elijah, Stevenson David A, Bruenner Georgette, Sebastian Jessica, Knapo Julia, Rosenfeld Jill A, Marcogliese Paul C, Wangler Michael F

Abstract excerpt

BACKGROUND: CTNNB1 (MIM 116806) encodes beta-catenin, an adherens junction protein that supports the integrity between layers of epithelial tissue and mediates intercellular signaling. Recently, various heterozygous germline variants in CTNNB1 have been associated with human disease, including neurodevelopmental disorder with spastic diplegia and visual defects (MIM 615075) as well as isolated familial exudative...

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PMID: 33350591
DOI: 10.1002/mgg3.1542
PMCID: PMC7963417

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