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GENATLAS PHENOTYPE

last update : 02-12-2013

Symbol	BOFS
Location	6p24.2
Name	branchio-oculo--facial syndrome
Corresponding gene	TFAP2A
Main clinical features	retarded postnatal growth, bilateral branchial cleft sinuses, cleft lip and palates, congenital strabismus, obstructed nasolacrimal ducts, broad nasal bridge, protruding upper lip, and carp mouth, normal intelligence
Genetic determination	autosomal dominant
Function/system disorder
Type	malformation

Remark(s)

majority of BOFS mutations (>90p100) occur in exons 4 and 5 of TFAP2A, which encode highly conserved residues associated with the DNA-binding domain of the AP-2 proteins