Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

doi:10.1038/s41431-024-01768-8

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Article

Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.

European journal of human genetics : EJHG - 1 Jun 2025

Karali Marianthi, García-García Gema, Kaminska Karolina, AlTalbishi Alaa, Cancellieri Francesca, Testa Francesco, Barillari Maria Rosaria, Panagiotou Evangelia S, Psillas George, Vaclavik Veronika, Tran Viet H, Janeschitz-Kriegl Lucas, Scholl Hendrik Pn, Salameh Manar, Barberán-Martínez Pilar, Rodríguez-Muñoz Ana, Armengot Miguel, Scarpato Margherita, Zeuli Roberta, Quinodoz Mathieu, Simonelli Francesca, Rivolta Carlo, Banfi Sandro, Millán José M

Abstract excerpt

The AGBL5 gene encodes for the Cytoplasmic Carboxypeptidase 5 (CCP5), an α-tubulin deglutamylase that cleaves the γ-carboxyl-linked branching point of glutamylated tubulin. To date, pathogenic variants in AGBL5 have been associated only with isolated retinitis pigmentosa (RP). Hearing loss has not been reported in AGBL5-caused retinal disease. In this study, we performed exome sequencing in probands of eight...

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PMID: 39672920
DOI: 10.1038/s41431-024-01768-8
PMCID: PMC12185745

Genes

AGBL5

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