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September 26, 2024JAMA Ophthalmology

Biallelic Loss-of-Function Variants in UBAP1L and Nonsyndromic Retinal Dystrophies

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Authors

EUEhsan UllahSLSiying LinJLJiaxiong Lu

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Overview

Multicenter case series study reveals biallelic loss-of-function UBAP1L variants in retinal dystrophies, suggesting a novel genetic etiology for human inherited retinopathy.

Key Points

  • Biallelic loss-of-function variants in UBAP1L cause inherited retinal dystrophies, presenting across six families as maculopathy, cone dystrophy, or cone-rod dystrophy.
  • Multicenter case series study sequenced six patients across four hospitals and profiled retinal pigment epithelium alongside cones via single-cell RNA sequencing.
  • Findings support UBAP1L screening to improve inherited retinal dystrophies diagnosis; however, the mouse model showed no degeneration, so further preclinical work is needed.

Cite This Study

Ullah et al. (2024) studied this question.

synapsesocial.com/papers/68e5743bb6db643587514b01https://doi.org/10.1001/jamaophthalmol.2024.3836
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Also Consider

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  1. 1The new landscape of retinal gene therapy2020 · 24 citations
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  3. 3Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration2024 · 15 citations
  4. 4Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps2018 · 267 citations