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

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.

• Authors: S Usami, S Abe, H Shinkawa, K Deffenbacher, S Kumar, W J Kimberling
• Journal: Journal of human genetics (J Hum Genet) Vol. 44 Issue 4 Pg. 261-5 ( 1999) ISSN: 1434-5161 [Print] England
• PMID: 10429368 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)

Chemical References

• Intracellular Signaling Peptides and Proteins
• Nuclear Proteins
• Trans-Activators
• EYA1 protein, human
• Protein Tyrosine Phosphatases

Topics

• Audiometry
• Branchio-Oto-Renal Syndrome (diagnostic imaging, genetics)
• Female
• Humans
• Intracellular Signaling Peptides and Proteins
• Japan
• Kidney (diagnostic imaging)
• Male
• Mutation
• Nuclear Proteins
• Pedigree
• Phenotype
• Protein Tyrosine Phosphatases
• Temporal Bone (diagnostic imaging)
• Tomography, X-Ray Computed
• Trans-Activators (genetics)
• Ultrasonography