von Lowtzow, Catharina and Hofmann, Andrea and Zhang, Rong and Marsch, Florian and Ebert, Anne-Karoline and Roesch, Wolfgang and Stein, Raimund and Boemers, Thomas M. and Hirsch, Karin and Marcelis, Carlo and Feitz, Wouter F. J. and Brusco, Alfredo and Migone, Nicola and Di Grazia, Massimo and Moebus, Susanne and Noethen, Markus M. and Reutter, Heiko and Ludwig, Michael and Draaken, Markus (2016) CNV analysis in 169 patients with bladder exstrophy-epispadias complex. BMC MEDICAL GENETICS, 17: 35. ISSN 1471-2350,
Full text not available from this repository. (Request a copy)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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | COPY-NUMBER VARIATION; CLOACAL EXSTROPHY; OEIS COMPLEX; ARRAY-CGH; EXPRESSION; DELETION; GENE; GENOME; ASSOCIATION; DUPLICATION; Bladder exstrophy-epispadias complex; Copy number variation; Genetic testing; EFNB1 |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Urologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 05 Apr 2019 06:17 |
| Last Modified: | 05 Apr 2019 06:17 |
| URI: | https://pred.uni-regensburg.de/id/eprint/3051 |
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