EYA1andSIX1gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions
โ Scribed by Michiyo Okada; Rika Fujimaru; Noriko Morimoto; Kenichi Satomura; Yoshikazu Kaku; Kazuo Tsuzuki; Kandai Nozu; Torayuki Okuyama; Kazumoto Iijima
- Publisher
- Springer
- Year
- 2006
- Tongue
- English
- Weight
- 166 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0931-041X
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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.
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
## Communicated by Peter Humphries Branchio-oto-renal syndrome (BOR) is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities.