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Pendred syndrome in Tunisia.

I Charfeddine1, M Mnejja, B Hammami

  • 1ENT and Head and Neck Surgery Department, Habib Bourguiba Teaching Hospital, Sfax, Tunisia.

European Annals of Otorhinolaryngology, Head and Neck Diseases
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Pendred syndrome, a common cause of congenital deafness, exhibits significant intrafamilial variability. This study identified a specific PDS gene mutation, L445W, in Tunisian families.

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Area of Science:

  • Genetics
  • Otolaryngology
  • Endocrinology

Background:

  • Pendred syndrome is a frequent genetic cause of congenital hearing loss.
  • It is characterized by sensorineural hearing loss, thyroid goiter, and inner ear malformations.
  • Consanguinity is a known risk factor for autosomal recessive disorders like Pendred syndrome.

Purpose of the Study:

  • To conduct a clinical and genetic investigation of Pendred syndrome in three consanguineous Tunisian families.
  • To identify the underlying genetic mutation responsible for Pendred syndrome in the studied population.
  • To characterize the clinical phenotype and intrafamilial variability.

Main Methods:

  • Clinical evaluation including ENT and audiovestibular assessments.
  • Radiological imaging (inner ear CT scans).
  • Molecular DNA analysis to identify gene mutations, specifically in the PDS gene.

Main Results:

  • Forty-three patients were affected, presenting with bilateral sensorineural hearing loss (87.5%) or mixed hearing loss (12.5%).
  • Deafness ranged from severe (21%) to profound (79%). Thyroid goiter was observed in 46.5% of cases.
  • All patients showed enlarged bilateral vestibular aqueducts on CT scans. A single mutation, L445W in the PDS gene, was identified in all affected individuals.

Conclusions:

  • Pendred syndrome is the most common congenital deafness syndrome.
  • The L445W mutation in the PDS gene is a significant cause of Pendred syndrome in this Tunisian cohort.
  • Great intrafamilial phenotype variability is a key feature of Pendred syndrome.