Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss

Int J Pediatr Otorhinolaryngol. 2009 Oct;73(10):1458-63. doi: 10.1016/j.ijporl.2009.06.003. Epub 2009 Jul 16.

Abstract

Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goitre and defective iodide organification. Congenital and profound hearing loss is the hallmark of the syndrome, while goitre and thyroid dysfunction are highly variable even within the same family. Clinical features are due to altered formation of pendrin, a chloride/iodide transporter protein expressed in the inner ear, thyroid gland and kidney. A novel substitution was found in exon 7 of the pendrin encoding gene (SLC26A4) that leads to a stop codon, S314X. The new variation was found in compound heterozygosity with L445W mutation in a hearing impaired patient with bilateral Mondini's dysplasia and goitre.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Follow-Up Studies
  • Goiter, Nodular / diagnosis
  • Goiter, Nodular / genetics
  • Hearing Loss, Sensorineural / diagnosis*
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / physiopathology
  • Humans
  • Italy
  • Magnetic Resonance Imaging / methods
  • Membrane Transport Proteins / genetics*
  • Mutation
  • Severity of Illness Index
  • Sulfate Transporters
  • Tomography, X-Ray Computed / methods

Substances

  • Membrane Transport Proteins
  • SLC26A4 protein, human
  • Sulfate Transporters

Supplementary concepts

  • Pendred syndrome