title: Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
abstract: The branchio-oculo-facial syndrome (BOFS) is a rare disorder with approximately 50 sporadic and familial cases in the literature. We report on the clinical and molecular analyses of five additional patients with BOFS (two familial and three sporadic). DNA analysis of the TFAP2A gene associated with BOFS using DNA sequencing detected a mutation [c.763A>G (p.Arg255Gly)] in two unrelated patients. This mutation had been reported in another patient and indicates a probable mutational hotspot in the TFAP2A gene. We also detected three new mutations which are restricted to exons 4-6. These gene regions are almost free of any single nucleotide polymorphisms. An evolutionary sequence comparison showed a high degree of sequence conservation from humans to the honey bee (Apis mellifera) in exon 6 showing that this part of the protein is probably essential. Our study represents the second group of BOFS patients with molecular confirmation, expanding the phenotype and spectrum of mutations and limiting it to a restricted part of the gene.
authors.affiliation: Human Genetics, University of Ulm, Ulm, Germany.
authors.forename: Judith
authors.initials: J
authors.lastname: Reiber
authors.forename: Yves
authors.initials: Y
authors.lastname: Sznajer
authors.forename: Elena Guillén
authors.initials: EG
authors.lastname: Posteguillo
authors.forename: Dietmar
authors.initials: D
authors.lastname: Müller
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Walter
authors.initials: W
authors.lastname: Just
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics* / Q000473:pathology*; D002675:Child, Preschool; D017124:Conserved Sequence; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D011247:Pregnancy; D050656:Transcription Factor AP-2 / Q000737:chemistry / Q000235:genetics*; D055815:Young Adult
chemical_list: C493673:TFAP2A protein, human; D050656:Transcription Factor AP-2