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

Elona Cama, Maria Stella Alemanno, Emanuele Bellacchio, Rosamaria Santarelli, Massimo Carella, Leopoldo Zelante, Teresa Palladino, Ingrid Inches, Francesco di Paola, Edoardo Arslan, Salvatore Melchionda

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1458-1463
Number of pages6
JournalInternational Journal of Pediatric Otorhinolaryngology
Volume73
Issue number10
DOIs
Publication statusPublished - Oct 2009

Keywords

  • Autosomal recessive hearing loss
  • Enlarged vestibular aqueduct
  • Novel mutation
  • Pendred syndrome
  • SLC26A4

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Pediatrics, Perinatology, and Child Health

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