CNV analysis in 169 patients with bladder exstrophy-epispadias complex

• Verfasst von: Lorenzen, Catharina Luise [VerfasserIn]
• Verfasst von: Stein, Raimund [VerfasserIn]
• Titel: CNV analysis in 169 patients with bladder exstrophy-epispadias complex
• Verf.angabe: 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 and Markus Draaken
• E-Jahr: 2016
• Jahr: 30 April 2016
• Umfang: 9 S.
• Fussnoten: Gesehen am 07.11.2019
• Titel Quelle: Enthalten in: BMC medical genetics
• Ort Quelle: London : BioMed Central, 2000
• Jahr Quelle: 2016
• Band/Heft Quelle: 17(2016,1) Artikel-Nummer 35, 9 Seiten
• ISSN Quelle: 1471-2350
• DOI: doi:10.1186/s12881-016-0299-x
• Datenträger: Online-Ressource
• Sprache: eng
• K10plus-PPN: 1681439085

Abstract

Background: 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.