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GENATLAS PHENOTYPE

last update : 21/03/07

Symbol	BOR2
Location	19q13.3
Name	branchio-oto-renal syndrome 2
Corresponding gene	SIX5
Main clinical features	deafness, preauricular pits, cervical fistulae, kidney dysplasia . in rare cases, association to retrognathia, pharyngolaryngomalacia , glossoptosis and pectus excavatum . including some cases without renal involvement
Genetic determination	autosomal dominant
Function/system disorder	ear
	kidney and urinary tract
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	affect SIX5-EYA1 binding