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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