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A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.

Emilia Stellacci¹, Lucia Ziccardi^2,3, Alessandro Bruselles¹

¹Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.

International Journal of Molecular Sciences

|March 14, 2026

Summary

Mutations in the ARL3 gene cause retinitis pigmentosa (RP), a degenerative eye disease. This study reveals how a specific ARL3 variant disrupts photoreceptor function and causes variable symptoms in families.

Keywords:

ARL3 ciliopathies functional validation retinal dystrophy retinitis pigmentosa

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Area of Science:

Genetics
Ophthalmology
Molecular Biology

Background:

Retinitis pigmentosa (RP) is a group of inherited retinal diseases causing photoreceptor degeneration.
Genetic heterogeneity is significant in RP, with over 85 genes identified.
Mutations in the ARL3 gene are increasingly recognized as a cause of RP.

Purpose of the Study:

Investigate the pathogenic mechanisms of the ARL3 c.199G>C (p.Asp67His) variant in a four-generation family.
Understand the role of ARL3 in photoreceptor function and RP pathogenesis.

Main Methods:

Identified the ARL3 c.199G>C (p.Asp67His) variant in affected individuals.
Assessed the impact of the mutant ARL3 protein on protein expression and ciliogenesis.
Correlated genotype with clinical phenotype in affected families.

Main Results:

The ARL3 c.199G>C variant disrupts normal ARL3 protein expression.
Mutant ARL3 impairs ciliogenesis, a critical process in photoreceptors.
Affected individuals exhibited non-syndromic RP with significant intrafamilial variability, including incomplete penetrance.

Conclusions:

The ARL3 p.Asp67His variant is pathogenic and causes non-syndromic retinitis pigmentosa.
Variable expressivity and incomplete penetrance are key features of this ARL3 variant.
Integrated molecular and functional studies are crucial for diagnosing RP.