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last update : 03-06-2009
Symbol BOR3
Location 14q23
Name branchio-oto-renal syndrome 3
Corresponding gene SIX1
Main clinical features
  • deafness, preauricular pits, cervical fistulae, kidney dysplasia
  • in rare cases, association to retrognathia, pharyngolaryngomalacia , glossoptosis and pectus excavatum
  • Genetic determination autosomal dominant
    Function/system disorder ear
    kidney and urinary tract
    Type disease
    Remark(s) . only the most N-terminal mutation in SIX1 (V17E) is able to completely abolish the SIX1-EYA protein interaction, whereas the other five mutations appear to cause major deficiencies in the ability of SIX1 to bind DNA (Patrick 2009)