Clinical presentation and the presence of hearing impairment in branchio-oculo-facial syndrome: a new mutation in the TFAP2A gene.
We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.
Department of Otorhinolaryngology, Center for Clinical Neuroscience, Radboud University Nijmegen Medical Center, Nijmegen, the Netherlands.
Henricus G X M
HG
Thomeer
Tom T H
TT
Crins
Erik J
EJ
Kamsteeg
Wendy
W
Buijsman
Johannes R M
JR
Cruysberg
Nine V A M
NV
Knoers
Cor W R J
CW
Cremers
D000293:Adolescent; D019280:Branchio-Oto-Renal Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D002648:Child; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006314:Hearing Loss, Conductive / Q000150:complications / Q000151:congenital* / Q000601:surgery; D006801:Humans; D008297:Male; D009154:Mutation; D017422:Sequence Analysis, DNA; D050656:Transcription Factor AP-2 / Q000235:genetics*
D050656:Transcription Factor AP-2