The Genomic Architecture of Bladder Exstrophy Epispadias Complex
Round 1
Reviewer 1 Report
I am happy to evaluate an article on such a special topic. I think this article will contribute to clinical practice.
Reviewer 2 Report
The authors presented and discussed data on the bladder exstrophy-epispadias complex (BEEC), including epidemiology and factors, especially genetic, that may cause the condition. The different forms of BEEC, i.e. epispadias (E), classic bladder exstrophy (CBE) and cloacal exstrophy (CE) were discussed. Interesting data are presented on coexistence of other malformations and BEEC.
The authors began their discussion of genetic determinants by presenting chromosomal anomalies in patients with BEEC. After discussing individual publications on this topic, the authors conclude that there is one chromosomal anomaly, 22q11 duplication, which has a clear association with BEEC.
The authors paid particular attention to the use of candidate and genome wide association studies (GWAS) and discussed the most relevant findings of the individual authors in the discussion.
The authors proposed that both inherited and de novo highly penetrant variants could be relevant to the etiology of BEEC.
The publication, in my opinion, is valuable, factual, and provides a solid research foundation related specifically to the molecular genetics of BEEC.
