Ear malformations with hearing impairment


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Inclusion Criteria

  • Unexplained bilateral ear malformation associated with bilateral hearing loss

Examples include cochlear hypoplasia/aplasia, incomplete partitioning of the cochlea, dilated vestibule, dilated vestibular aqueducts, dilated, hypolplastic or absent semicircular canals, hypoplastic or absent VIIIth nerve, duplicated or absent IAM (internal auditory meatus).

Exclusion Criteria

  •  Bilateral lateral semicircular canal dysplasia is excluded.

Prior genetic testing guidance

  • Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition.
  • Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Prior genetic testing genes

Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice:

  • Enlarged vestibular aqueducts: SLC26A4
  • Cochlear hypoplasia and preauricular pits in any family member: EYA1/SIX1
  • Inner ear agenesis (absent cochlea or vestibule): FGF3
  • Absent semi-circular canals: consider CHD7
  • Vestibular/semicircular canal dysplasia: consider SOX10

Closing statement

These requirements will be kept under continual review during the Main Programme and may be subject to change.

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