Article
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
American journal of human genetics - 1 Apr 2007
Hoskins Bethan E, Cramer Carl H, Silvius Derek, Zou Dan, Raymond Richard M, Orten Dana J, Kimberling William J, Smith Richard J H, Weil Dominique, Petit Christine, Otto Edgar A, Xu Pin-Xian, Hildebrandt Friedhelm
Abstract excerpt
Branchio-oto-renal syndrome (BOR) is an autosomal dominant developmental disorder characterized by the association of branchial arch defects, hearing loss, and renal anomalies. Mutations in EYA1 are known to cause BOR. More recently, mutations in SIX1, which interacts with EYA1, were identified as an additional cause of BOR. A second member of the SIX family of proteins, unc-39 (SIX5), has also been reported to...
Topics
- Base Sequence
- Branchio-Oto-Renal Syndrome
- Genetic Predisposition to Disease
- Genetic Testing
- Homeodomain Proteins
- Humans
- Intracellular Signaling Peptides and Proteins
- Luciferases
- Molecular Sequence Data