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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
Published on: October 10, 2022
Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy
Milda Reith1,2, Katarina Stingl1,2, Lasse Wolfram1,3
1University Eye Hospital, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany.
Ophthalmic Genetics
|July 27, 2026
Summary
Genetic testing identified likely pathogenic variants in the UBAP1L gene in three patients with inherited retinal diseases, specifically rod-cone and cone-rod dystrophy. This finding advances understanding of UBAP1L
Area of Science:
- Ophthalmology and Genetics
- Molecular Biology and Genetic Medicine
Background:
- Inherited retinal diseases (IRDs) encompass a group of genetically diverse disorders affecting photoreceptor cells.
- Rod-cone dystrophy (RCD) and cone-rod dystrophy (CRD) are specific forms of IRDs characterized by progressive vision loss.
- The genetic underpinnings of many IRDs remain incompletely understood, necessitating further research into novel disease-associated genes.
Purpose of the Study:
- To investigate the genetic basis of rod-cone dystrophy and cone-rod dystrophy in three affected patients.
- To identify likely pathogenic variants in the UBAP1L gene associated with these retinal phenotypes.
Main Methods:
- Cross-sectional study involving three participants with diagnosed RCD or CRD.
- Comprehensive ophthalmological examinations including visual acuity, perimetry, fundus imaging, OCT, and electrophysiology.
- Genome sequencing followed by in silico inherited retinal disease (IRD) gene panel testing for genetic diagnosis.
Main Results:
- Identification of likely biallelic variants in the UBAP1L gene in all three patients.
- Participant A exhibited a rod-cone dystrophy phenotype with two heterozygous UBAP1L variants.
- Participants B and C presented with cone-rod dystrophy phenotypes, each carrying homozygous UBAP1L variants, including novel mutations.
Conclusions:
- Novel and previously reported variants in the UBAP1L gene are implicated as the likely cause of RCD and CRD phenotypes.
- This study expands the known genetic spectrum associated with UBAP1L-related retinal disorders.
- Further research with larger cohorts and longitudinal follow-up is needed for robust genotype-phenotype correlations.
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