ArticleBMC medical genetics2016
CNV analysis in 169 patients with bladder exstrophy-epispadias complex.
Article in BMC medical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Genetic analysis of two bladder exstrophy populations of South Asian and North American origin.Journal of pediatric urology · 2025Article
- A case report of single umbilical artery combined with fetal bladder exstrophy in singleton pregnancy and related literature review.BMC pregnancy and childbirth · 2024Review
- Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.American journal of medical genetics. Part A · 2023Article
- Exome sequencing of child-parent trios with bladder exstrophy: Findings in 26 children.American journal of medical genetics. Part A · 2021Article
- Lessons Learned from CNV Analysis of Major Birth Defects.International journal of molecular sciences · 2020Review
- Article
- Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene.Molecular genetics & genomic medicine · 2019Article
- Evaluation of theHuman genome variation · 2018Article
- Role of the LF-SINE-Derived DistalJournal of pediatric genetics · 2017Article
- ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.Scientific reports · 2017Article
- Translational Research for Pediatric Lower Urinary Tract Dysfunction.International neurourology journal · 2016Review
Corrections and comments
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Authors and funding
19 authors at 11 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology.
methodsTo detect further CNVs, array analysis was performed in 169 BEEC patients. Prior to inclusion, 22q11.21 duplications were excluded using multiplex ligation-dependent probe amplification.
resultsFollowing the application of stringent filter criteria, seven rare CNVs were identified: n = 4, not present in 1307 in-house controls; n = 3, frequency of <0.002 in controls. These CNVs ranged from 1 to 6.08 Mb in size. To identify smaller CNVs, relaxed filter criteria used in the detection of previously reported BEEC associated chromosomal regions were applied. This resulted in the identification of six additional rare CNVs: n = 4, not present in 1307 in-house controls; n = 2, frequency <0.0008 in controls. These CNVs ranged from 0.03-0.08 Mb in size. For 10 of these 13 CNVs, confirmation and segregation analyses were performed (5 of maternal origin; 5 of paternal origin). Interestingly, one female with classic bladder extrophy carried a 1.18 Mb duplication of 22q11.1, a chromosomal region that is associated with cat eye syndrome.
conclusionsA number of rare CNVs were identified in BEEC patients, and these represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial BEEC phenotypes.
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