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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

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

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.[1]

References

  1. EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. Usami, S., Abe, S., Shinkawa, H., Deffenbacher, K., Kumar, S., Kimberling, W.J. J. Hum. Genet. (1999) [Pubmed]
 
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