دورية أكاديمية
Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants
| العنوان: | Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants |
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| المؤلفون: | Martín Lagos, Juan, Bernal Robledano, Alberto, Pérez Carpena, Patricia, Lamolda, Mar, Escalera Balsera, Alba, Frejo, Lidia, López Escámez, José Antonio |
| بيانات النشر: | Springer Nature |
| سنة النشر: | 2024 |
| المجموعة: | DIGIBUG: Repositorio Institucional de la Universidad de Granada |
| مصطلحات موضوعية: | Tinnitus disorder, Phenotype, Exome sequencing |
| الوصف: | Purpose To describe the clinical, audiological, and psychometric features observed in patients with chronic tinnitus and rare variants in the ANK2 gene. Methods We report a case series of 12 patients with chronic tinnitus and heterozygous variants in the ANK2 gene. Tinnitus phenotyping included audiological (standard and high-frequency audiometry, Auditory Brainstem Responses (ABR) and Auditory Middle Latency Responses (AMLR)), psychoacoustic and psychometric assessment by a Visual Analog Scale (VAS) for tinnitus annoyance, the Tinnitus Handicap Inventory (THI), the test on Hypersensitivity to Sound (THS-GÜF), the Patient Health Questionnaire (PHQ-9), the Hospital Anxiety and Depression Scale (HADS) and the Montreal Cognitive Assessment (MoCA). Results All patients reported a persistent, unilateral noise-type tinnitus, mainly described as white noise or narrowband noise. Seven patients (58%) were considered to have extreme phenotype (THI score > 76), and all patients reported some degree of hyperacusis (THS-GÜF score > 18 in 75% of patients). Seven patients scored MoCA < 26, regardless of the age reported, suggesting a mild cognitive disorder. ABR showed no significant differences in latencies and amplitudes between ears with or without tinnitus. Similarly, the latencies of Pa, Pb waves, and NaPa complex in the AMLR did not differ based on the presence of tinnitus. However, there were statistical differences in the amplitudes of Pa waves in AMLR, with significantly greater amplitudes observed in ears with tinnitus. Conclusion 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. ; Open Access funding enabled and organized by CAUL and its Member Institutions ; Instituto de Salud Carlos III (PI22/01838, ISCIII; CD20/00153) ; Consejería de Salud y Familias, Junta de Andalucía (Grant RH-0150-2020) ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/grantAgreement/EC/HE/848261; Martin-Lagos, J., Bernal-Robledano, A., Perez-Carpena, P. et al. Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants. Eur Arch Otorhinolaryngol (2024). https://doi.org/10.1007/s00405-024-08561-9Test; https://hdl.handle.net/10481/92461Test |
| DOI: | 10.1007/s00405-024-08561-9 |
| الإتاحة: | https://doi.org/10.1007/s00405-024-08561-9Test https://hdl.handle.net/10481/92461Test |
| حقوق: | Atribución 4.0 Internacional ; http://creativecommons.org/licenses/by/4.0Test/ ; info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.7C8E5212 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1007/s00405-024-08561-9 |
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