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Volume 26
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This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa

by
Viviana Cordeddu
1,*,
Elisabetta Flex
1,
Luca Mignini
2,
Alessandro Bruselles
1,
Serena Cecchetti
3,
Elena Messina
1,
Maria Beatrice Arasi
1,2,
Mattia Carvetta
2,4,
Emilio Straface
1,
Alessandro Leone
1,5,
Daniele Guadagnolo
6,
Maria Cecilia D’Asdia
7,
Marcella Nebbioso
8,
Emanuele Bellacchio
2,
Carmen Dell’Aquila
9,
Lucia Ziccardi
9,10,
Antonio Pizzuti
6,
Alessandro De Luca
7 and
Marco Tartaglia
2,*
1
Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy
2
Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San Paolo 15, 00146 Rome, Italy
3
Confocal Microscopy Unit—Core Facilities, Istituto Superiore di Sanità, 00161 Rome, Italy
4
Department of Biochemical Sciences “Alessandro Rossi Fanelli”, Sapienza University of Rome, 00185 Rome, Italy
5
Department of Humanities, Law and Economics, Telematic University Leonardo da Vinci, UNIDAV, Torrevecchia Teatina, 66100 Chieti, Italy
6
Department of Experimental Medicine, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy
7
Medical Genetics Laboratory, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
8
Department of Sense Organs, Sapienza University of Rome, Piazzale Aldo Moro 5, 00185 Rome, Italy
9
IRCCS-Fondazione Bietti, Via Livenza 1, 00198 Rome, Italy
10
Department of Medicine and Health Sciences “V. Tiberio”, University of Molise, Via F. De Sanctis 1, 86100 Campobasso, Italy
*
Authors to whom correspondence should be addressed.
Int. J. Mol. Sci. 2025, 26(17), 8244; https://doi.org/10.3390/ijms26178244 (registering DOI)
Submission received: 24 July 2025 / Revised: 19 August 2025 / Accepted: 22 August 2025 / Published: 25 August 2025
(This article belongs to the Special Issue Retinal Degenerative Diseases: 2nd Edition)
Versions Notes

Abstract

A class of retinal dystrophies known as retinitis pigmentosa (RP) is caused by the loss of photoreceptor cells. RP can be genetically transmitted as an autosomal dominant, autosomal recessive, or X-linked trait. About one-third of genes implicated in retinal degeneration encode for proteins whose functional dysregulation affects the “connecting cilium” in photoreceptors, altering its structure and function. Here we report on a 33-year-old woman who was referred for clinical genetic testing following a previous diagnosis of degenerative retinopathy, which was not informative. She was enrolled in a research program dedicated to undiagnosed retinal disorders, where a whole genome sequencing approach was employed to understand the underlying genetic basis. The genomic analysis documented the occurrence of compound heterozygosity for two functionally relevant missense variants in BAIAP3, which encodes a protein with a well-documented role in SNARE-mediated trafficking and ciliogenesis. Confocal microscopy analysis showed elongated cilia in patient-derived and BAIAP3-depleted fibroblasts compared to control cells. Real-time PCR analyses showed a consistent significant reduction of GLI1 mRNA levels in patient-derived and BAIAP3-depleted cells, both in basal conditions and after treatment with Smoothened agonist, SAG, indicating Sonic hedgehog signaling dysregulation. Collectively, these data suggest that biallelic loss-of-function variants of BAIAP3 may cause photoreceptor degeneration and underlie isolated RP.
Keywords: retinitis pigmentosa; retinal dystrophy; whole genome sequencing; BAIAP3; ciliogenesis retinitis pigmentosa; retinal dystrophy; whole genome sequencing; BAIAP3; ciliogenesis

Share and Cite

MDPI and ACS Style

Cordeddu, V.; Flex, E.; Mignini, L.; Bruselles, A.; Cecchetti, S.; Messina, E.; Arasi, M.B.; Carvetta, M.; Straface, E.; Leone, A.; et al. Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa. Int. J. Mol. Sci. 2025, 26, 8244. https://doi.org/10.3390/ijms26178244

AMA Style

Cordeddu V, Flex E, Mignini L, Bruselles A, Cecchetti S, Messina E, Arasi MB, Carvetta M, Straface E, Leone A, et al. Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa. International Journal of Molecular Sciences. 2025; 26(17):8244. https://doi.org/10.3390/ijms26178244

Chicago/Turabian Style

Cordeddu, Viviana, Elisabetta Flex, Luca Mignini, Alessandro Bruselles, Serena Cecchetti, Elena Messina, Maria Beatrice Arasi, Mattia Carvetta, Emilio Straface, Alessandro Leone, and et al. 2025. "Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa" International Journal of Molecular Sciences 26, no. 17: 8244. https://doi.org/10.3390/ijms26178244

APA Style

Cordeddu, V., Flex, E., Mignini, L., Bruselles, A., Cecchetti, S., Messina, E., Arasi, M. B., Carvetta, M., Straface, E., Leone, A., Guadagnolo, D., D’Asdia, M. C., Nebbioso, M., Bellacchio, E., Dell’Aquila, C., Ziccardi, L., Pizzuti, A., De Luca, A., & Tartaglia, M. (2025). Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa. International Journal of Molecular Sciences, 26(17), 8244. https://doi.org/10.3390/ijms26178244

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