Review
Open access
Aug 2026
Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.
It is demonstrated that protein-truncating variants are scattered throughout the length of the OTOG protein, however, pathogenic missense variants occur only in key domains such as vWD and trypsin inhibitor-like cysteine-rich domains.
Aoife Flynn, Rebecca Finnegan, Aisling Stafford et al.
· Journal of Medical Genetics · 0 citations