Martín Campagne E, Guerrero Fernández J, Gracia Bouthelier R, Tovar Larrucea J A
Servicios de Endocrinología Pediátrica, Hospital Infantil Universitario La Paz, Madrid, España.
An Pediatr (Barc). 2006 Dec;65(6):616-8. doi: 10.1157/13095855.
Anomalies in WT-1 (Wilms' tumor gene), mapped to 11p13, cause Denys-Drash, Frasier and WAGR syndromes. WAGR syndrome is characterized by Wilms' tumor (W), aniridia (A), genitourinary anomalies (G) and mental retardation (R). In the early human fetus, WT-1 is expressed in the pleural and abdominal mesothelium, and consequently this gene may play a role in diaphragm development. The first report of an association between WAGR syndrome and congenital diaphragmatic hernia has recently been published. We present another infant with aniridia, left cryptorchidism with testicular dysgenesis, right-sided posterolateral diaphragmatic hernia and moderate psychomotor retardation, in whom genetic study showed a deletion of 11p13 and PAX-6, confirming the diagnosis of WAGR syndrome.
定位于11p13的WT-1(威尔姆斯瘤基因)异常会导致迪尼-德拉斯综合征、弗雷泽综合征和WAGR综合征。WAGR综合征的特征为威尔姆斯瘤(W)、无虹膜(A)、泌尿生殖系统异常(G)和智力迟钝(R)。在人类早期胎儿中,WT-1在胸膜和腹膜间皮中表达,因此该基因可能在膈肌发育中起作用。最近发表了关于WAGR综合征与先天性膈疝之间关联的首例报告。我们报告了另一例患有无虹膜、左侧隐睾伴睾丸发育不全、右侧后外侧膈疝和中度精神运动发育迟缓的婴儿,其基因研究显示11p13和PAX-6缺失,证实了WAGR综合征的诊断。