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 journalArticle

22 Citations (Scopus)

Abstract

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
Volume44
Issue number4
DOIs
StatePublished - Jul 17 1999

Fingerprint

Branchio-Oto-Renal Syndrome
Nonsense Codon
Mutation
Molecular Biology
Genes
Genetic Testing
Population
Exons
Physicians
Phenotype
Kidney

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Usami, S. I., Abe, S., Shinkawa, H., Deffenbacher, K., Kumar, S., & Kimberling, W. J. (1999). EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. Journal of Human Genetics, 44(4), 261-265. https://doi.org/10.1007/s100380050156

EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. / Usami, Shin Ichi; Abe, Satoko; Shinkawa, Hideichi; Deffenbacher, Karen; Kumar, Shrawan; Kimberling, William J.

In: Journal of Human Genetics, Vol. 44, No. 4, 17.07.1999, p. 261-265.

Research output: Contribution to journalArticle

Usami, SI, Abe, S, Shinkawa, H, Deffenbacher, K, Kumar, S & Kimberling, WJ 1999, 'EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family', Journal of Human Genetics, vol. 44, no. 4, pp. 261-265. https://doi.org/10.1007/s100380050156
Usami SI, Abe S, Shinkawa H, Deffenbacher K, Kumar S, Kimberling WJ. EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. Journal of Human Genetics. 1999 Jul 17;44(4):261-265. https://doi.org/10.1007/s100380050156
Usami, Shin Ichi ; Abe, Satoko ; Shinkawa, Hideichi ; Deffenbacher, Karen ; Kumar, Shrawan ; Kimberling, William J. / EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. In: Journal of Human Genetics. 1999 ; Vol. 44, No. 4. pp. 261-265.
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