A Complex TFAP2A Allele Is Associated With Branchio-Oculo-Facial Syndrome and Inner Ear Malformation in a Deaf Child

Tekin M., Sirmaci A., Yuksel-Konuk B., FİTOZ Ö. S., Sennaroglu L.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.149A, sa.3, ss.427-430, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 149A Sayı: 3
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1002/ajmg.a.32619
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.427-430
  • Anahtar Kelimeler: branchial anomalies, cleft lip, inner ear malformation, cochlear anomaly, deafness, deletion, hearing loss, insertion, mondini, UNUSUAL FACIAL APPEARANCE
  • Ankara Üniversitesi Adresli: Evet

Özet

We present a 4-year-old girl with congenital profound sensorineural deafness associated with inner ear malformation (incomplete partition type 11, 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-oculo-facial (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. (C) 2009 Wiley-Liss, Inc.