Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)

Hum Mol Genet. 2000 Jul 1;9(11):1709-15. doi: 10.1093/hmg/9.11.1709.

Abstract

The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a transporter of iodide and chloride. Mutations in this gene are responsible for Pendred syndrome and autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromosome 7q31. A screen of 20 individuals from the midwestern USA with non-syndromic hearing loss and dilated vestibular aqueducts identified three people (15%) with PDS mutations. To determine whether PDS mutations in individuals with Pendred syndrome differ functionally from PDS mutations in individuals with non-syndromic hearing loss, we compared three common Pendred syndrome allele variants (L236P, T416P and E384G), with three PDS mutations reported only in individuals with non-syndromic hearing loss (V480D, V653A and I490L/G497S). The mutations associated with Pendred syndrome have complete loss of pendrin-induced chloride and iodide transport, while alleles unique to people with DFNB4 are able to transport both iodide and chloride, albeit at a much lower level than wild-type pendrin. We hypothesize that this residual level of anion transport is sufficient to eliminate or postpone the onset of goiter in individuals with DFNB4. We propose a model for pendrin function in the thyroid in which pendrin transports iodide across the apical membrane of the thyrocyte into the colloid space.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Animals
  • Carrier Proteins / genetics*
  • Female
  • Genetic Variation
  • Goiter / genetics*
  • Goiter / pathology
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Iodine / pharmacokinetics
  • Membrane Transport Proteins*
  • Mutation
  • Oocytes / cytology
  • Oocytes / metabolism
  • Phenotype
  • RNA, Complementary / administration & dosage
  • Sulfate Transporters
  • Xenopus laevis

Substances

  • Carrier Proteins
  • Membrane Transport Proteins
  • RNA, Complementary
  • SLC26A4 protein, human
  • Sulfate Transporters
  • Iodine