EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family

Shin Ichi Usami, Satoko Abe, Hideichi Shinkawa, Karen Deffenbacher, Shrawan Kumar, William J. Kimberling

Research output: Contribution to journalArticlepeer-review

23 Scopus citations


Advances in molecular genetics have recently revealed that mutations in the EYA1 gene are responsible for branchio-oto-renal (BOR) syndrome in European and other populations. This is the first report confirming that an EYA1 gene mutation is also disease-causing in an Asian population. We have described one Japanese BOR syndrome family showing a novel mutation in exon 7 of the EYA1 gene. There was extensive variation of clinical phenotypes within this family. When the physician is confronted with a BOR family showing a wide variation in clinical expression, molecular genetic testing helps to achieve accurate diagnosis.

Original languageEnglish (US)
Pages (from-to)261-265
Number of pages5
JournalJournal of Human Genetics
Issue number4
StatePublished - 1999


  • Branchio-oto-renal (BOR) syndrome
  • EYA1
  • Hearing impairment
  • Japanese
  • Mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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