CNV analysis in 169 patients with bladder exstrophy-epispadias complex
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...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
30 April 2016
|
| In: |
BMC medical genetics
Year: 2016, Volume: 17, Issue: 1 |
| ISSN: | 1471-2350 |
| DOI: | 10.1186/s12881-016-0299-x |
| Online Access: | Verlag, Volltext: https://doi.org/10.1186/s12881-016-0299-x
|
| Author Notes: | 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 |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1681439085 | ||
| 003 | DE-627 | ||
| 005 | 20220817021452.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 191107s2016 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1186/s12881-016-0299-x |2 doi | |
| 035 | |a (DE-627)1681439085 | ||
| 035 | |a (DE-599)KXP1681439085 | ||
| 035 | |a (OCoLC)1341250557 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Lorenzen, Catharina Luise |e VerfasserIn |0 (DE-588)1138454176 |0 (DE-627)896020568 |0 (DE-576)492549567 |4 aut | |
| 245 | 1 | 0 | |a CNV analysis in 169 patients with bladder exstrophy-epispadias complex |c 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 |
| 264 | 1 | |c 30 April 2016 | |
| 300 | |a 9 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 07.11.2019 | ||
| 520 | |a 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. | ||
| 700 | 1 | |a Stein, Raimund |d 1963- |e VerfasserIn |0 (DE-588)1016769091 |0 (DE-627)671837656 |0 (DE-576)352637323 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t BMC medical genetics |d London : BioMed Central, 2000 |g 17(2016,1) Artikel-Nummer 35, 9 Seiten |h Online-Ressource |w (DE-627)326643788 |w (DE-600)2041359-2 |w (DE-576)107014661 |x 1471-2350 |7 nnas |a CNV analysis in 169 patients with bladder exstrophy-epispadias complex |
| 773 | 1 | 8 | |g volume:17 |g year:2016 |g number:1 |g extent:9 |a CNV analysis in 169 patients with bladder exstrophy-epispadias complex |
| 856 | 4 | 0 | |u https://doi.org/10.1186/s12881-016-0299-x |x Verlag |x Resolving-System |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20191107 | ||
| 993 | |a Article | ||
| 994 | |a 2016 | ||
| 998 | |g 1016769091 |a Stein, Raimund |m 1016769091:Stein, Raimund |d 60000 |d 63100 |e 60000PS1016769091 |e 63100PS1016769091 |k 0/60000/ |k 1/60000/63100/ |p 7 | ||
| 999 | |a KXP-PPN1681439085 |e 3538485070 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"type":{"bibl":"article-journal","media":"Online-Ressource"},"origin":[{"dateIssuedDisp":"30 April 2016","dateIssuedKey":"2016"}],"title":[{"title_sort":"CNV analysis in 169 patients with bladder exstrophy-epispadias complex","title":"CNV analysis in 169 patients with bladder exstrophy-epispadias complex"}],"person":[{"display":"Lorenzen, Catharina Luise","family":"Lorenzen","role":"aut","given":"Catharina Luise","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","given":"Raimund","role":"aut","family":"Stein","display":"Stein, Raimund"}],"physDesc":[{"extent":"9 S."}],"note":["Gesehen am 07.11.2019"],"id":{"eki":["1681439085"],"doi":["10.1186/s12881-016-0299-x"]},"relHost":[{"origin":[{"publisher":"BioMed Central ; Springer","dateIssuedDisp":"2020$n[2000-2020]","dateIssuedKey":"2020","publisherPlace":"London ; Berlin ; Heidelberg"}],"pubHistory":["Volume 1 (2000)-volume 21 (2020)"],"title":[{"title":"BMC medical genetics","title_sort":"BMC medical genetics"}],"part":{"extent":"9","volume":"17","year":"2016","text":"17(2016,1) Artikel-Nummer 35, 9 Seiten","issue":"1"},"language":["eng"],"type":{"media":"Online-Ressource","bibl":"periodical"},"disp":"CNV analysis in 169 patients with bladder exstrophy-epispadias complexBMC medical genetics","physDesc":[{"extent":"Online-Ressource"}],"id":{"issn":["1471-2350"],"zdb":["2041359-2"],"eki":["326643788"]},"note":["Gesehen am 01.04.2022"],"recId":"326643788"}],"name":{"displayForm":["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"]},"recId":"1681439085","language":["eng"]} | ||
| SRT | |a LORENZENCACNVANALYSI3020 | ||