Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature.
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.
Reutter
Heiko
H
Department of Pediatrics, Children's Hospital, Medical Center of the University of Bonn, Adenauerallee, Bonn, Germany.
Shapiro
Ellen
E
Gruen
Jeffrey R
JR
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics*; D001746:Bladder Exstrophy / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D003241:Consanguinity; D004200:Diseases in Twins / Q000235:genetics; D004842:Epispadias / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D007407:Interviews as Topic; D008297:Male; D009679:Nuclear Family; D010375:Pedigree; D012042:Registries; D014429:Twins, Dizygotic; D014430:Twins, Monozygotic