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CNV analysis in 169 patients with bladder exstrophy-epispadias complex

Overview of attention for article published in BMC Medical Genomics, April 2016
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Title
CNV analysis in 169 patients with bladder exstrophy-epispadias complex
Published in
BMC Medical Genomics, April 2016
DOI 10.1186/s12881-016-0299-x
Pubmed ID
Authors

Catharina von Lowtzow, Andrea Hofmann, Rong Zhang, Florian Marsch, Anne-Karoline Ebert, Wolfgang Rösch, Raimund Stein, Thomas M. Boemers, Karin Hirsch, Carlo Marcelis, Wouter F. J. Feitz, Alfredo Brusco, Nicola Migone, Massimo Di Grazia, Susanne Moebus, Markus M. Nöthen, Heiko Reutter, Michael Ludwig, Markus Draaken

Abstract

The 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. To 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. Following 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. A 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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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 25 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 25 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 5 20%
Student > Postgraduate 4 16%
Student > Bachelor 3 12%
Professor > Associate Professor 3 12%
Other 2 8%
Other 3 12%
Unknown 5 20%
Readers by discipline Count As %
Medicine and Dentistry 12 48%
Biochemistry, Genetics and Molecular Biology 2 8%
Computer Science 1 4%
Nursing and Health Professions 1 4%
Social Sciences 1 4%
Other 1 4%
Unknown 7 28%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 02 May 2016.
All research outputs
#20,656,820
of 25,374,647 outputs
Outputs from BMC Medical Genomics
#1,682
of 2,444 outputs
Outputs of similar age
#232,351
of 312,188 outputs
Outputs of similar age from BMC Medical Genomics
#17
of 30 outputs
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