## 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.
SIX1 Mutation Associated With Enlargement of the Vestibular Aqueduct in a Patient With Branchio-Oto Syndrome
β Scribed by Taku Ito; Yoshihiro Noguchi; Takatoshi Yashima; Ken Kitamura
- Book ID
- 110088040
- Publisher
- John Wiley and Sons
- Year
- 2006
- Tongue
- English
- Weight
- 420 KB
- Volume
- 116
- Category
- Article
- ISSN
- 0023-852X
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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
Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial, ear, and renal anomalies. Over 80 mutations in EYA1 have been reported in BOR. Mutations in SIX1, a DNA binding protein that associates with EYA1, have been reported less frequently. One group has recentl