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Retinal Dystrophy Associated with Homozygous Variants in NRL.

Jordi Maggi¹, James V M Hanson², Lisa Kurmann¹

¹Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.

|January 8, 2025

Summary

This study identifies new genetic variants in the Neural retina leucine zipper (NRL) gene causing recessive retinal dystrophy. Findings expand the known genetic causes of this rare inherited eye disease.

Keywords:

NRL retinal dystrophy retinitis pigmentosa splicing uniparental disomy

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Area of Science:

Genetics
Ophthalmology
Molecular Biology

Background:

Neural retina leucine zipper (NRL) is crucial for rod photoreceptor differentiation.
Pathogenic NRL variants cause retinal dystrophies, including rare autosomal recessive forms.
Few families with recessive NRL-related retinal dystrophy have been reported.

Purpose of the Study:

To expand the genotypic spectrum of NRL-related retinal dystrophy.
To report clinical and genetic findings in two new unrelated families.

Main Methods:

Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were used.
Segregation analysis confirmed variant inheritance.
Minigene assays functionally characterized a splicing variant.

Main Results:

Homozygous NRL variants were identified in both families.
A splice site deletion in patient A caused aberrant transcripts.
A stop-gain variant in patient B was linked to maternal uniparental disomy.

Conclusions:

The genotypic spectrum of autosomal recessive NRL-related retinal dystrophy is expanded.
Bioinformatic pipelines are vital for variant detection.
Minigene assays are useful for functional splicing variant characterization.