Article
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2020
Vig Anjali, Poulter James A, Ottaviani Daniele, Tavares Erika, Toropova Katerina, Tracewska Anna Maria, Mollica Antonio, Kang Jasmine, Kehelwathugoda Oshini, Paton Tara, Maynes Jason T, Wheway Gabrielle, Arno Gavin, Khan Kamron N, McKibbin Martin, Toomes Carmel, Ali Manir, Di Scipio Matteo, Li Shuning, Ellingford Jamie, Black Graeme, Webster Andrew, Rydzanicz Małgorzata, Stawiński Piotr, Płoski Rafał, Vincent Ajoy, Cheetham Michael E, Inglehearn Chris F, Roberts Anthony, Heon Elise
Abstract excerpt
PURPOSE: Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). METHODS: Genome and exome sequencing were performed for five unrelated cases of IRD with no identified variant. In vitro assays were developed to validate the variants identified (fibroblast assay, induced pluripotent stem cell [iPSC] derived retinal organoids, and a dynein motility assay). RESULTS: Four novel...
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