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Article

Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients.

Human mutation - 1 Apr 2021

Laurent Sacha, Gehrig Corinne, Nouspikel Thierry, Amr Sami S, Oza Andrea, Murphy Elissa, Vannier Anne, Béna Frédérique Sloan, Carminho-Rodrigues Maria Teresa, Blouin Jean-Louis, Cao Van Hélène, Abramowicz Marc, Paoloni-Giacobino Ariane, Guipponi Michel

Abstract excerpt

Bi-allelic loss-of-function variants of OTOA are a well-known cause of moderate-to-severe hearing loss. Whereas non-allelic homologous recombination-mediated deletions of the gene are well known, gene conversions to pseudogene OTOAP1 have been reported in the literature but never fully described nor their pathogenicity assessed. Here, we report two unrelated patients with moderate hearing-loss, who were compound...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 33492714
DOI: 10.1002/humu.24167
PMCID: PMC8750238

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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