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SIX1 Mutation Associated With Enlargement of the Vestibular Aqueduct in a Patient With Branchio-Oto Syndrome

✍ 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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## 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.

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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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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