A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

Mustafa Tekin, Asli Sirmaci, Berrin Yüksel-Konuk, Suat Fitoz, Levent Sennaroǧlu

Research output: Contribution to journalArticle

28 Scopus citations


We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type II, enlarged vestibule, and enlarged vestibular aqueduct). The proposita also had pseudocleft lips, skin defects, auricle abnormalities, and unilateral multicystic dysplastic kidney, leading to the diagnosis of branchio-oculofacial (BOF) syndrome. Mutation analysis of the TFAP2A gene showed a de novo deletion of 18 and insertion of 6 nucletiodes, resulting in deletion of amino acids LPGARR and insertion of RI between amino acids 276 and 281. Altered amino acids are located within the basic DNA binding and dimerization domains of TFAP2A. Previously reported amino acid substitutions in TFAP2A involved only DNA binding domain in four patients with BOF syndrome who were not reported to have profound sensorineural deafness. Our report implies that the localization of mutations in TFAP2A might be responsible with the phenotypic findings in BOF syndrome.

Original languageEnglish (US)
Pages (from-to)427-430
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Issue number3
StatePublished - Mar 1 2009
Externally publishedYes



  • Branchial anomalies
  • Cleft lip
  • Cochlear anomaly
  • Deafness
  • Deletion
  • Hearing loss
  • Inner ear malformation
  • Insertion
  • Mondini

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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