Integration of human and mouse genetics reveals pendrin function in hearing and deafness

Amiel A. Dror, Zippora Brownstein, Karen B. Avraham

Research output: Contribution to journalReview articlepeer-review

18 Scopus citations

Abstract

Genomic technology has completely changed the way in which we are able to diagnose human genetic mutations. Genomic techniques such as the polymerase chain reaction, linkage analysis, Sanger sequencing, and most recently, massively parallel sequencing, have allowed researchers and clinicians to identify mutations for patients with Pendred syndrome and DFNB4 non-syndromic hearing loss. While thus far most of the mutations have been in the SLC26A4 gene coding for the pendrin protein, other genetic mutations may contribute to these phenotypes as well. Furthermore, mouse models for deafness have been invaluable to help determine the mechanisms for SLC26A4-associated deafness. Further work in these areas of research will help define genotype-phenotype correlations and develop methods for therapy in the future.

Original languageEnglish
Pages (from-to)535-544
Number of pages10
JournalCellular Physiology and Biochemistry
Volume28
Issue number3
DOIs
StatePublished - 2011
Externally publishedYes

Keywords

  • Enlarged vestibular aqueduct
  • Hearing loss
  • Massively parallel sequencing
  • Otoconia
  • SLC26A4

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