Genetic features of hearing loss associated with ear anomalies: PDS and EYA1 mutation analysis

A. Namba, S. Abe, H. Shinkawa, W. J. Kimberling, S. Usami

Research output: Contribution to journalArticlepeer-review

17 Scopus citations

Abstract

Mutation analysis of the PDS gene and the EYA1 gene, which are reported to be responsible for hearing loss associated with ear anomalies, was performed in 24 deaf patients with various middle and inner ear anomalies. The present study was done to clarify the spectrum of middle and inner ear malformations covered by these two genes. PDS mutations were found only in patients with enlarged vestibular aqueducts and EYA1 mutations were detected only in patients with ear pits and cervical fistulae, indicating that these two genes are associated with particular forms of middle and inner ear malformation. The genetic approach provides a strong tool for the diagnosis of hearing loss associated with ear anomalies.

Original languageEnglish (US)
Pages (from-to)518-521
Number of pages4
JournalJournal of Human Genetics
Volume46
Issue number9
DOIs
StatePublished - 2001

Keywords

  • EYA1
  • Ear anomaly
  • Enlarged vestibular aqueduct
  • Mutation analysis
  • PDS

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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