Reutter Heiko, Shapiro Ellen, Gruen Jeffrey R
Department of Pediatrics, Children's Hospital, Medical Center of the University of Bonn, Adenauerallee, Bonn, Germany.
Am J Med Genet A. 2003 Jul 15;120A(2):215-21. doi: 10.1002/ajmg.a.20057.
Clustering of the bladder exstrophy and epispadias complex (BEEC) has been described in 29 families. To explore the genetic contribution we located new families through the German and Austrian Bladder Exstrophy Support Group and the Association for the Bladder Exstrophy Community (predominantly US and Canada). We report six new families with two occurrences of BEEC, one family where the proband is the product of a consanguineous union, and four discordant twin pairs. In conjunction with the published clinical and epidemiological reports this collection suggests that there is a significant genetic predisposition for susceptibility to the BEEC. It also highlights the importance of self-referral groups for recruiting families for multicenter collaborative research efforts to identify susceptibility loci.
膀胱外翻和尿道上裂综合征（BEEC）的家族聚集现象已在29个家庭中得到描述。为了探究遗传因素的作用，我们通过德国和奥地利膀胱外翻支持小组以及膀胱外翻社区协会（主要来自美国和加拿大）找到了一些新的家庭。我们报告了6个出现两例BEEC的新家庭、1个先证者为近亲结婚产物的家庭以及4对不一致的双胞胎。结合已发表的临床和流行病学报告，这一系列案例表明，BEEC易感性存在显著的遗传倾向。这也凸显了自我推荐群体对于招募家庭参与多中心合作研究以确定易感基因座的重要性。
