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Branchio-oculo-facial syndrome (BOF, MIM 1136201) is a rare autosomal dominant disorder. The symptoms of this disorder include bilateral postauricular cervical branchial sinus defects with haemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, and, occasionally, prematurely grey hair. Father to son transmission of this disorder has been observed,2 which indicate autosomal dominant inheritance. Another disorder with hearing loss resulting from bilateral branchial cleft fistulas is branchio-oto-renal syndrome (BOR, MIM 113650). Common features of both syndrome are summarised in table 1. Some characteristics of both BOR and BOF syndromes have been reported in a father (BOF) and his son (BOR), but the constant features of BOF syndrome were not observed in either of them. This observation led to the conclusion that BOF and BOR might be allelic variants of the same gene.3 It was suggested that, in both syndromes, penetrance and expression could be variable, and it was concluded that BOF and BOR syndromes are the variable results of mutations in the same autosomal gene.3 However, it was pointed out later that both subjects in fact should be considered as BOF syndrome rather than BOF and BOR syndrome, and that these syndromes are distinct entities and may not be allelic.4 Another related disorder is branchio-otic syndrome (BO, MIM 602588), which comprises branchial fistulas, preauricular pits, and hearing impairment, but lacks renal anomalies (table 1).
The first candidate gene for BOR has been mapped. This gene, EYA1 (“eyes absent-like”, a human homologue of the Drosophila eyes absent gene), was found by positional cloning5 and maps to chromosome 8q13.3. Mutations in EYA1 have been described,6–8 which made …
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