Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.
Am J Med Genet A
; 149A(10): 2141-6, 2009 Oct.
Article
em En
| MEDLINE
| ID: mdl-19764023
ABSTRACT
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Osso Temporal
/
Síndrome Brânquio-Otorrenal
/
Fator de Transcrição AP-2
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2009
Tipo de documento:
Article