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Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea
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SLC26A4 mutations are associated with a specific inner ear malformation.

Suat Fitoz1, Levent Sennaroğlu, Armağan Incesulu

  • 1Department of Radiodiagnostics, Ankara University School of Medicine, Ankara, Turkey.

International Journal of Pediatric Otorhinolaryngology
|January 2, 2007
PubMed
Summary

Mutations in the SLC26A4 gene are linked to specific inner ear anomalies, primarily enlarged vestibular aqueduct (EVA) or incomplete partition-II, rather than a wide range of malformations in children with hearing loss.

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Area of Science:

  • Genetics
  • Otolaryngology
  • Developmental Biology

Background:

  • Inner ear anomalies are present in about 30% of children with early-onset deafness.
  • Genetic factors for these anomalies are often unidentified.
  • SLC26A4 gene mutations have been associated with enlarged vestibular aqueduct (EVA) and Mondini dysplasia.

Purpose of the Study:

  • To investigate the spectrum of inner ear anomalies associated with SLC26A4 gene mutations.
  • To characterize the morphological changes in patients with SLC26A4 mutations.

Main Methods:

  • Screened the SLC26A4 gene for mutations in 16 subjects from 14 Turkish families with diverse inner ear anomalies.
  • Included four patients with Pendred syndrome.
  • Used computed tomography of the temporal bone to assess inner ear morphology.

Main Results:

  • One patient with EVA had a heterozygous SLC26A4 mutation (c.1586delT).
  • All Pendred syndrome patients had homozygous SLC26A4 mutations.
  • Pendred syndrome patients exhibited EVA or EVA with incomplete partition-II.

Conclusions:

  • SLC26A4 mutations are not linked to a broad range of inner ear anomalies.
  • These mutations specifically cause morphological changes consistent with EVA or incomplete partition-II.