CNV analysis in 169 patients with bladder exstrophy-epispadias complex

dc.contributor.authorvon Lowtzow, Catharina
dc.contributor.authorHofmann, Andrea
dc.contributor.authorZhang, Rong
dc.contributor.authorMarsch, Florian
dc.contributor.authorEbert, Anne-Karoline
dc.contributor.authorRösch, Wolfgang
dc.contributor.authorStein, Raimund
dc.contributor.authorBoemers, Thomas M.
dc.contributor.authorHirsch, Karin
dc.contributor.authorMarcelis, Carlo
dc.contributor.authorFeitz, Wouter F. J.
dc.contributor.authorBrusco, Alfredo
dc.contributor.authorMigone, Nicola
dc.contributor.authorDi Grazia, Massimo
dc.contributor.authorMoebus, Susanne
dc.contributor.authorNöthen, Markus M.
dc.contributor.authorReutter, Heiko
dc.contributor.authorLudwig, Michael
dc.contributor.authorDraaken, Markus
dc.date.accessioned2016-12-30
dc.date.available2016-12-28
dc.date.created2016
dc.date.issued2016-12-30
dc.description.abstractBackground 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. Methods 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. Results 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. Conclusions 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.en
dc.identifier.citationBMC Medical Genetics 17 (2016). <http://bmcmedgenet.biomedcentral.com/articles/10.1186/s12881-016-0299-x>
dc.identifier.doihttps://doi.org/10.1186/s12881-016-0299-x
dc.identifier.opus-id8021
dc.identifier.urihttps://open.fau.de/handle/openfau/8021
dc.identifier.urnurn:nbn:de:bvb:29-opus4-80211
dc.language.isoen
dc.rights.urihttps://creativecommons.org/licenses/by/3.0/de/deed.de
dc.subjectBladder exstrophy-epispadias complex
dc.subjectCopy number variation
dc.subjectGenetic testing
dc.subjectEFNB1
dc.subject.ddcDDC Classification::6 Technik, Medizin, angewandte Wissenschaften :: 61 Medizin und Gesundheit :: 610 Medizin und Gesundheit
dc.titleCNV analysis in 169 patients with bladder exstrophy-epispadias complexen
dc.typearticle
dcterms.publisherFriedrich-Alexander-Universität Erlangen-Nürnberg (FAU)
local.journal.titleBMC Medical Genetics
local.journal.volume17
local.sendToDnbfree*
local.subject.fakultaetMedizinische Fakultät
local.subject.gnd-
local.subject.sammlungUniversität Erlangen-Nürnberg / Open Access Artikel ohne Förderung / Open Access Artikel ohne Förderung 2016
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