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EYA1nonsense mutation in a Japanese branchio-oto-renal syndrome family

✍ Scribed by S. Usami; Satoko Abe; Hideichi Shinkawa; Karen Deffenbacher; Shrawan Kumar; William J. Kimberling


Publisher
Nature Publishing Group
Year
1999
Tongue
English
Weight
252 KB
Volume
44
Category
Article
ISSN
1435-232X

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Branchio-oto-renal syndrome: The mutatio
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## Communicated by Mark H. Paalman EYA1 mutations cause branchio-oto-renal (BOR) syndrome. These mutations include single nucleotide transitions and transversions, small duplications and deletions, and complex genomic rearrangements. The last cannot be detected by coding sequence analysis of EYA1.

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The Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial clefts, preauricular sinuses, hearing loss, and renal anomalies. Recent studies have shown that mutations in EYA1 are associated with BOR. However, the underlying molecular mechanisms by which mutation

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## Communicated by Maria Rita Passos-Bueno Branchio-oto-renal syndrome (BOR) is an autosomal dominant disorder characterized by the association of branchial and external ear malformations, hearing loss, and renal anomalies. The phenotype varies from ear pits to profound hearing loss, branchial fist