BOR2 syndrome is an autosomal dominant disorder that variably involves developmental defects of ear, brachial arches, and kidney. The disease is caused by mutations in the gene SIX5.
The clinical presentation is similarily variable in all forms of branchiootorenal dysplasia, and it is describe in the superordinate concept.
|Branchiootorenal dysplasia 1|
|Branchiootorenal dysplasia 2|
|Townes-Brocks branchiootorenal-like syndrome|
Hoskins BE et al. (2007) Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Boucher CA et al. (1995) A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.
OMIM.ORG articleOmim 610896