Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.

doi:10.1016/j.gim.2024.101106

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Article

Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2024

Han Ji Hoon, Rodenburg Kim, Hayman Tamar, Calzetti Giacomo, Kaminska Karolina, Quinodoz Mathieu, Marra Molly, Wallerich Sandrine, Allon Gilad, Nagy Zoltán Z, Knézy Krisztina, Li Yumei, Chen Rui, Barboni Mirella Telles Salgueiro, Yang Paul, Pennesi Mark E, van den Born L Ingeborgh, Varsányi Balázs, Szabó Viktória, Sharon Dror, Banin Eyal, Ben-Yosef Tamar, Roosing Susanne, Koenekoop Robert K, Rivolta Carlo

Abstract excerpt

PURPOSE: Inherited retinal diseases (IRDs) are a group of monogenic conditions that can lead to progressive blindness. Their missing heritability is still considerable, due in part to the presence of disease genes that await molecular identification. The purpose of this work was to identify novel genetic associations with IRDs. METHODS: Patients underwent a comprehensive ophthalmological evaluation using...

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PMID: 38420906
DOI: 10.1016/j.gim.2024.101106

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