Variable Ocular Phenotype and Confirmation of Tfap2a Gene Involvement in Branchio-Oculo-Facial Syndrome (BOFS)

Abstract

Purpose: : Branchio-Oculo-Facial Syndrome (BOFS) is an autosomal dominant condition characterized by three main features respectively: branchial defects, ocular anomalies that may lead to blindness and craniofacial anomalies including cleft lip/palate.

Methods: : We report on one familial case with three affected, and two sporadic cases that did not show cryptic chromosomal aberrations on microarray analysis and were subsequently screened for mutations in the recently identified TFAP2A gene.

Results: : Three point mutations (S239P,L249P, L218P), of which two are novel, were identified confirming the TFAP2A gene as the causative gene in BOFS.

Conclusions: : This report confirms the involvement of this transcription factor TFAP2A in this developmental syndrome that discloses important clinical variability especially at the level of the eye including: congenital nasolacrimal duct defect, cystic or non cystic microphthalmia and coloboma of various degree.

Keywords: genetics • mutations • retina