Erratum: Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment

Hum Mutat. 2002 Jul;20(1):77-8. doi: 10.1002/humu.9043.

Abstract

Pendred syndrome is an autosomal-recessive disorder characterized by congenital sensorineural hearing loss combined with goiter. This disorder may account for up to 10% of cases of hereditary deafness. The disease gene (PDS/SLC26A4) has been mapped to chromosome 7q22-q31 and encodes a chloride-iodide transport protein. Mutations in this gene are also a cause of non-syndromic autosomal recessive hearing impairment (DFNB4). We have analyzed the PDS/SLC26A4 gene in Spanish and Italian families and we have detected five novel mutations (X781W, T132I, IVS2-2A>G, Y556H and 406del5).

Publication types

  • Research Support, Non-U.S. Gov't
  • Corrected and Republished Article

MeSH terms

  • Alleles
  • Alternative Splicing / genetics
  • Carrier Proteins / genetics*
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Family Health
  • Genotype
  • Goiter / complications
  • Goiter / genetics
  • Hearing Loss, Sensorineural / complications
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Italy
  • Mediterranean Region
  • Membrane Transport Proteins*
  • Mutation
  • Mutation, Missense
  • Phenotype
  • Sequence Deletion
  • Spain
  • Sulfate Transporters
  • Syndrome

Substances

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

Associated data

  • OMIM/274600
  • OMIM/605646