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.
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Received: February 23, 1999 / Accepted: April 2, 1999
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Usami, S., Abe, S., Shinkawa, H. et al. EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. J Hum Genet 44, 261–265 (1999). https://doi.org/10.1007/s100380050156
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DOI: https://doi.org/10.1007/s100380050156
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