Confirmation of TFAP2A Gene Involvement in Branchio-Oculo-Facial Syndrome (BOFS) and Report of Temporal Bone Anomalies

被引：29

作者：

Stoetzel, C. ^{[1
]}

Riehm, S. ^{[2
]}

Greene, V. Bennouna ^{[1
]}

Pelletier, V. ^{[3
,4
]}

Vigneron, J.

Leheup, B. ^{[5
]}

Marion, V. ^{[1
]}

Helle, S. ^{[1
]}

Danse, J. M. ^{[1
]}

Thibault, C. ^{[6
]}

Moulinier, L. ^{[6
]}

Veillon, F. ^{[2
]}

Dollfus, H. ^{[1
,3
,4
]}

机构：

[1] Univ Strasbourg, Med Genet Lab, Fac Med Strasbourg, INSERM,Equipe Avenir,EA 3949, F-67085 Strasbourg, France

[2] Hop Univ Strasbourg, Dept Radiol, Strasbourg, France

[3] Hop Univ Strasbourg, Dept Radiol, CARGO, Strasbourg, France

[4] Hop Univ Strasbourg, Serv Genet Med, Strasbourg, France

[5] CHU Nancy, Serv Med Infantile & Genet Clin 3, Nancy, France

[6] Inst Genet & Biol Mol & Cellulaire, Illkirch Graffenstaden, France

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2009年 / 149A卷 / 10期

关键词：

brachio-oculo-facial syndrome; TFAP2A; temporal bone anomalies; CHARGE-SYNDROME; MUTATIONS; CHILD;

D O I：

10.1002/ajmg.a.33015

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 (CUP). 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. (c) 2009 Wiley-Liss, Inc.

引用

页码：2141 / 2146

页数：6

共 32 条

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