Long-term audiological feature in Pendred syndrome caused by PDS mutation

Arch Otolaryngol Head Neck Surg. 2001 Jun;127(6):705-8. doi: 10.1001/archotol.127.6.705.

Abstract

Pendred syndrome is an autosomal recessive disorder characterized by profound deafness in childhood and goiter. We report a case of Pendred syndrome in a 27-year-old woman who had a diffuse goiter and progressive sensorineural hearing loss with fluctuation and a missense mutation (His723Arg) in the PDS gene identified in a homozygous state. Audiological findings were observed clinically over a 20-year period. Progressive hearing loss with fluctuation occurred before age 12 years. An enlarged vestibular aqueduct with enlargement of the endolymphatic duct and sac was confirmed with 3-dimensional magnetic resonance imaging hydrography.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arginine / genetics
  • Biological Transport / genetics
  • Carrier Proteins / genetics*
  • Chromosomes, Human, Pair 7
  • DNA Mutational Analysis
  • Disease Progression
  • Evoked Potentials, Auditory, Brain Stem
  • Female
  • Goiter / genetics*
  • Hearing Loss, Sensorineural / genetics*
  • Histidine / genetics
  • Humans
  • Magnetic Resonance Imaging
  • Membrane Transport Proteins*
  • Mutation, Missense*
  • Sulfate Transporters
  • Syndrome
  • Time Factors
  • Vestibular Aqueduct / pathology

Substances

  • Carrier Proteins
  • Membrane Transport Proteins
  • SLC26A4 protein, human
  • Sulfate Transporters
  • Histidine
  • Arginine