Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants.
Juan Martin-LagosAlberto Bernal-RobledanoPatricia Perez-CarpenaMar LamoldaAlba Escalera-BalseraLidia FrejoJose-Antonio Lopez-EscamezPublished in: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery (2024)
Patients with ANK2 variants and severe tinnitus exhibit an endophenotype featuring hyperacusis, persistent noise-like tinnitus, high-frequency hearing loss, and decreased amplitudes in AMLR. However, anxiety, depression, and cognitive symptoms vary among individuals.
Keyphrases
- hearing loss
- high frequency
- copy number
- end stage renal disease
- transcranial magnetic stimulation
- sleep quality
- newly diagnosed
- chronic kidney disease
- ejection fraction
- prognostic factors
- peritoneal dialysis
- depressive symptoms
- genome wide
- early onset
- air pollution
- gene expression
- transcription factor
- genome wide identification