Deafness is a common multifactorial sensory disorder with numerous underlying causes (genetic, environmental) and a broad range of impact on humans. To date, 156 non-syndromic hearing loss-associated genes have been identified (DFN) and 75%-80% follow a recessive inheritance pattern (DFNB)....
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Discussion
Signed responses from readers of the wire.
Audiologists and genetic counsellors serving Irish Traveller patients with unexplained sensorineural hearing loss should consider OTOG founder-variant testing; no change to standard audiological management is indicated based on this report alone.
Identifying population-specific founder variants improves the diagnostic yield of genetic hearing loss panels and enables more precise genetic counselling for underserved communities like the Irish Traveller population.
- 01A founder variant in OTOG gene identified as cause of non-syndromic sensorineural hearing loss in Irish Travellers.
- 02Adds to the 156+ known non-syndromic deafness loci, expanding the genetic map of hearing loss.
- 03Founder effects occur when a small ancestral population passes a rare variant to many descendants.
- 04Published in Journal of Medical Genetics (PMID 42642215, DOI 10.1136/jmg-2026-111607).
- 05Findings have implications for targeted genetic screening panels in this ethnic group.
A founder variant in the OTOG gene causes non-syndromic sensorineural hearing loss in the Irish Traveller population.
studysupportedThere are now 156+ known non-syndromic deafness loci.
studysupported- PMID
- 42642215
- DOI
- 10.1136/jmg-2026-111607.
- Journal
- Journal of Medical Genetics
- Publication type
- research_article
- Evidence level
- 4
- Population
- Members of the Irish Traveller population with non-syndromic sensorineural hearing loss
- Intervention
- Genetic sequencing to identify OTOG founder variant
Primary outcomes
Identification of a pathogenic founder variant in OTOG; Characterisation of associated sensorineural hearing loss phenotype