Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations.

doi:10.3390/genes17080856

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Article

Phenotypic Expansion of PPP1R12A-Related Syndrome: A Novel Splicing Variant Associated with Hearing Loss and Inner Ear Malformations.

Genes - 24 Jul 2026

Pianigiani Giulia, Rosso Lara Emily, Morgan Anna, Spedicati Beatrice, Napoli Manuela, Caraffi Stefano Giuseppe, Coccia Emanuele, Polizzi Valeria, Garavelli Livia, Girotto Giorgia

Abstract excerpt

Background: Pathogenic variants in the PPP1R12A gene have been associated with a malformation syndrome involving the brain and the genitourinary systems (GUBS, MIM #618820). To date, neither hearing loss (HL) nor inner ear malformations have been reported in affected individuals, and these features are therefore not currently regarded as part of the PPP1R12A-related phenotype. Moreover, functional evidence...

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PMID: 42650049
DOI: 10.3390/genes17080856
PMCID: PMC13512303

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