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Seven new cases of familial isolated bladder exstrophy and epispadias complex (BEEC) and review of the literature
Author(s) -
Reutter Heiko,
Shapiro Ellen,
Gruen Jeffrey R.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20057
Subject(s) - proband , bladder exstrophy , medicine , epispadias , demography , genetic epidemiology , epidemiology , surgery , genetics , biology , sociology , gene , mutation
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. © 2003 Wiley‐Liss, Inc.