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GENATLAS PHENOTYPE

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)