Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.

doi:10.15252/emmm.201911861

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Article

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.

EMBO molecular medicine - 7 Jul 2020

Kröll-Hermi Ariane, Ebstein Frédéric, Stoetzel Corinne, Geoffroy Véronique, Schaefer Elise, Scheidecker Sophie, Bär Séverine, Takamiya Masanari, Kawakami Koichi, Zieba Barbara A, Studer Fouzia, Pelletier Valerie, Eyermann Carine, Speeg-Schatz Claude, Laugel Vincent, Lipsker Dan, Sandron Florian, McGinn Steven, Boland Anne, Deleuze Jean-François, Kuhn Lauriane, Chicher Johana, Hammann Philippe, Friant Sylvie, Etard Christelle, Krüger Elke, Muller Jean, Strähle Uwe, Dollfus Hélène

Abstract excerpt

The ubiquitin-proteasome system degrades ubiquitin-modified proteins to maintain protein homeostasis and to control signalling. Whole-genome sequencing of patients with severe deafness and early-onset cataracts as part of a neurological, sensorial and cutaneous novel syndrome identified a unique deep intronic homozygous variant in the PSMC3 gene, encoding the proteasome ATPase subunit Rpt5, which lead to the...

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Identifiers

PMID: 32500975
DOI: 10.15252/emmm.201911861
PMCID: PMC7338805

Genes

PSMC3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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