Branchio-oculo-facial syndrome in a newborn caused by a novel TFAP2A mutation

N. Güneş, F. B. Cengiz, D. Duman, S. Dervişoǧlu, M. Tekin, Beyhan Tüysüz

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

We present an 18-day old boy with bilateral cervical cutaneous defect in the retroauricular region, low-set and posteriorly rotated ears, bilateral microphtalmia and bilateral pseudocleft of the upper lip. Histopathological evaluation of cervical cutaneous defect showed ulceration on the surface and ectopic thymus tissue in the deep dermis with cortex, medulla and Hassal's corpuscles. Clinical findings led to the diagnosis of Branchio-oculo-facial syndrome, characterized by branchial defects (erythematous cutaneous defects in cervical region), ocular anomalies (microphthalmia, anophthalmia, lacrimal duct obstruction, coloboma, cataract, ptosis) and facial defects (cleft lip and/or palate, pseudocleft or abnormal philtrum). DNA sequencing showed a novel heterozygous mutation, c.731T>C (p.L244P), in TFAP2A gene confirming the diagnosis of this rare autosomal dominant developmental disorder with variable clinical findings.

Original languageEnglish (US)
Pages (from-to)41-47
Number of pages7
JournalGenetic Counseling
Volume25
Issue number1
StatePublished - 2014

Keywords

  • Aplasia cutis congenita
  • Branchio-oculo-facial syndrome
  • Ectopic thymus
  • TFAP2A

ASJC Scopus subject areas

  • Genetics(clinical)

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