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Transcription Factor SIX5 Is Mutated in Patients with Branchio-Oto-Renal Syndrome

✍ Scribed by Bethan E. Hoskins; Carl H. Cramer; Derek Silvius; Dan Zou; Richard M. Raymond Jr.; Dana J. Orten; William J. Kimberling; Richard J.H. Smith; Dominique Weil; Christine Petit; Edgar A. Otto; Pin-Xian Xu; Friedhelm Hildebrandt

Book ID
117855016
Publisher
American Society of Human Genetics
Year
2007
Tongue
English
Weight
859 KB
Volume
80
Category
Article
ISSN
0002-9297

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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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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