Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
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.
Reiber
Judith
J
Human Genetics, University of Ulm, Ulm, Germany.
Sznajer
Yves
Y
Posteguillo
Elena Guillén
EG
Müller
Dietmar
D
Lyonnet
Stanislas
S
Baumann
Clarisse
C
Just
Walter
W
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
C493673:TFAP2A protein, human; D050656:Transcription Factor AP-2