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Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
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SOX10 mutations mimic isolated hearing loss.

V Pingault1,2,3, E Faubert1, V Baral2,3

  • 1Département de Génétique, Hôpital Henri Mondor, AP-HP, Créteil, France.

Clinical Genetics
|September 27, 2014
PubMed
Summary
This summary is machine-generated.

SOX10 gene mutations can cause isolated hearing loss, mimicking non-syndromic conditions. Early diagnosis requires considering olfactory defects and advanced imaging like MRI alongside CT scans.

Keywords:
SOX10anosmiadeafnessinner ear

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Area of Science:

  • Genetics
  • Otolaryngology
  • Medical Imaging

Background:

  • Over 90 genes are linked to non-syndromic hearing loss, and 300+ syndromic forms exist.
  • SOX10 gene mutations cause diverse phenotypes, including Waardenburg and Kallmann syndromes with deafness.
  • Rare SOX10 mutations can present with isolated symptoms, complicating diagnosis.

Purpose of the Study:

  • To identify patients with isolated hearing loss due to SOX10 mutations using temporal bone imaging findings.
  • To investigate the role of SOX10 mutations in congenital deafness with morphological defects.

Main Methods:

  • Selected 21 patients with isolated deafness and temporal bone defects for SOX10 mutational screening.
  • Performed in vitro functional assays to assess the impact of identified mutations on protein function.
  • Re-evaluated patients for olfactory deficits and reviewed imaging findings.

Main Results:

  • Identified two SOX10 mutations in patients with isolated deafness and temporal bone defects.
  • Both mutations resulted in non-functional SOX10 protein.
  • Re-evaluation revealed previously undiagnosed olfactory defects (anosmia/hyposmia) in affected patients.

Conclusions:

  • SOX10 mutations can present as isolated hearing loss, mimicking non-syndromic hearing impairment, especially without MRI.
  • Diagnosis of olfactory dysfunction in children is challenging.
  • Recommend MRI in conjunction with temporal bone CT scans for congenital deafness to detect brain and olfactory bulb anomalies.