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Confirmation of TFAP2A gene involvement in branchio‐oculo‐facial syndrome (BOFS) and report of temporal bone anomalies
Author(s) -
Stoetzel C.,
Riehm S.,
Bennouna Greene V.,
Pelletier V.,
Vigneron J.,
Leheup B.,
Marion V.,
Hellé S.,
Danse J.M.,
Thibault C.,
Moulinier L.,
Veillon F.,
Dollfus H.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33015
Subject(s) - craniofacial , missense mutation , branchial arch , medicine , craniofacial abnormality , gene , anatomy , genetics , biology , mutation , embryo
Branchio‐oculo‐facial syndrome (BOFS) is an autosomal‐dominant condition characterized by three main features, respectively: branchial defects, ocular anomalies, and craniofacial defects including cleft lip and/or palate (CL/P). We report on one family with three affected, and two sporadic cases that have been found to carry missense mutations in the newly reported BOFS gene: TFAP2A . This report confirms the involvement of this transcription factor in this developmental syndrome with clinical variability. Moreover, we present CT scan temporal bone anomalies in the familial cases, related to branchial arch defects, highlighting the importance of radiological investigations for differential diagnosis. © 2009 Wiley‐Liss, Inc.