title: Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.
abstract: Branchio-oculo-facial syndrome (BOFS) is an autosomal-dominant condition characterized by three main features, respectively: branchial defects, ocular anomalies, and craniofacial defects including cleft lip and/or palate (CL/P). We report on one family with three affected, and two sporadic cases that have been found to carry missense mutations in the newly reported BOFS gene: TFAP2A. This report confirms the involvement of this transcription factor in this developmental syndrome with clinical variability. Moreover, we present CT scan temporal bone anomalies in the familial cases, related to branchial arch defects, highlighting the importance of radiological investigations for differential diagnosis.
authors.affiliation: Laboratoire de Génétique Médicale EA 3949, Equipe Avenir-Inserm, Faculté de Médecine de Strasbourg, Université de Strasbourg, Strasbourg, France.
authors.forename: C
authors.initials: C
authors.lastname: Stoetzel
authors.forename: S
authors.initials: S
authors.lastname: Riehm
authors.forename: V
authors.initials: V
authors.lastname: Bennouna Greene
authors.forename: V
authors.initials: V
authors.lastname: Pelletier
authors.forename: J
authors.initials: J
authors.lastname: Vigneron
authors.forename: B
authors.initials: B
authors.lastname: Leheup
authors.forename: V
authors.initials: V
authors.lastname: Marion
authors.forename: S
authors.initials: S
authors.lastname: Hellé
authors.forename: J M
authors.initials: JM
authors.lastname: Danse
authors.forename: C
authors.initials: C
authors.lastname: Thibault
authors.forename: L
authors.initials: L
authors.lastname: Moulinier
authors.forename: F
authors.initials: F
authors.lastname: Veillon
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D019280:Branchio-Oto-Renal Syndrome / Q000150:complications / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D013701:Temporal Bone / Q000002:abnormalities*; D050656:Transcription Factor AP-2 / Q000235:genetics* / Q000502:physiology
chemical_list: C493673:TFAP2A protein, human; D050656:Transcription Factor AP-2