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  • Lateral semicircular canal dilatation in a patient with congenital hearing loss due to α-tectorin mutation: microanatomical considerations

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Case Reports: Findings that shed new light on the possible pathogenesis of a disease
Lateral semicircular canal dilatation in a patient with congenital hearing loss due to α-tectorin mutation: microanatomical considerations
  1. Anastasios Goulioumis1,2,
  2. Michalis Athanasopoulos1,
  3. Kleanthi Kalogerakou3 and
  4. Kostis Gyftopoulos2
  1. 1Otorhinolaryngology, Karamandanio Children's Hospital, Patras, Greece
  2. 2Anatomy, University of Patras School of Health Sciences, Patras, Greece
  3. 3CT and MRI, Athens Medical Centre, Athens, Greece
  1. Correspondence to Dr Anastasios Goulioumis; goulioum{at}upatras.gr

Abstract

The tectorial membrane is crucial in the physiology of the auditory neuroepithelium. Mutations in one of its functional molecules, α-tectorin, lead to autosomal dominant and recessive congenital mid-frequency, non-syndromic hearing loss.

Typically, α-tectorin mutations are not accompanied by any morphological abnormalities of the labyrinth. For the first time, we present a case of a toddler boy with congenital hearing loss due to TECTA gene mutation and concomitant bilateral dilation of the lateral semicircular canals.

The expression of glycoproteins, like α-tectorin, varies between the distinct labyrinth acellular membranes. Various mutations in the TECTA gene may affect additional glycoproteins that share a high percentage of sequence similarity at the amino acid level with α-tectorin. The mutated glycoproteins differ in the hydration level of their side chains of glycosaminoglycans. Hydration level could affect the mass of the ampullary cupula of the lateral semicircular canal leading to its dilation during embryogenesis.

  • Ear, nose and throat/otolaryngology
  • Genetics
  • Congenital disorders

https://doi.org/10.1136/bcr-2022-254068

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    Footnotes

    • Contributors AG contributed to drafting of the text, AG and KK contributed to sourcing and editing of clinical images, and AG, MA, KK and KG contributed to investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content. AG, MA, KK and KG gave final approval of the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.