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March 4, 20260 citationsOpen Access

Evaluation of the relation between phenotype and genotype in clinical audiology

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BKBirger KollmeierCarl von Ossietzky Universität OldenburgAWAnna Warzybok-OetjenCarl von Ossietzky Universität OldenburgPAPaul Avan

Key Points

  • The aim is to understand how specific auditory traits (phenotypes) relate to genetic variations (genotypes) associated with hearing loss.
  • Literature review of genetic causes of hearing loss
  • Analysis of auditory phenotyping techniques
  • Comparison of severe versus mild-to-moderate hearing loss cases
  • Auditory phenotyping is key to linking genetic variations with their effects.
  • Most genetic causes are linked to severe hearing loss, typically needing Cochlear Implants.
  • Emerging evidence suggests mild-to-moderate hearing loss may also have genetic underpinnings.

Abstract

Precise auditory phenotyping is crucial to link genetic variants with their functional consequences and vice versa. While known genetic causes of hearing loss are mostly associated with severe hearing loss typically associated with Cochlear Implant indication, recent studies even consider mild-to-moderate for full text, please go to the a.m. URL

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Cite This Study

Kollmeier et al. (2026) studied this question.

synapsesocial.com/papers/69a7cd7ed48f933b5eed9e1fhttps://doi.org/10.3205/26dga025
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