Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

doi:10.1016/j.ajhg.2025.12.016

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Article

Dominant and recessive ATOH1 variants cause distinct neurodevelopmental disorders with hearing loss.

American journal of human genetics - 5 Feb 2026

Bertola Nicole, Blondiaux Eléonore, Harion Madeleine, Dorboz Imen, Passemard Sandrine, Mercier Sandra, Conrad Solène, Cogné Benjamin, Boyer Julie, Uyttebroeck Sophie, Van Schil Kristof, Wuyts Wim, Rendtorff Nanna Dahl, Bertelsen Mette, Mey Kristianna, Blanc Pierre, Champ Jerome, Boespflug-Tanguy Odile, Cantagrel Vincent, Burglen Lydie, Coolen Marion

Abstract excerpt

ATOH1 encodes a basic helix-loop-helix transcription factor critical for hindbrain development and mechanosensory system formation. While animal models have provided extensive functional insights, few human disease-causing variants in ATOH1 have been reported and with no clear functional validation. Here, we report three heterozygous frameshift variants identified in five unrelated families, leading to C-ter...

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Identifiers

PMID: 41592563
DOI: 10.1016/j.ajhg.2025.12.016
PMCID: PMC13087419

Genes

ATOH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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