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CNV analysis in 169 patients with bladder exstrophy-epispadias complex.

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.

journal_name

BMC Med Genet

journal_title

BMC medical genetics

authors

von Lowtzow C,Hofmann A,Zhang R,Marsch F,Ebert AK,Rösch W,Stein R,Boemers TM,Hirsch K,Marcelis C,Feitz WF,Brusco A,Migone N,Di Grazia M,Moebus S,Nöthen MM,Reutter H,Ludwig M,Draaken M

doi

10.1186/s12881-016-0299-x

subject

Has Abstract

pub_date

2016-04-30 00:00:00

pages

35

issue

1

issn

1471-2350

pii

10.1186/s12881-016-0299-x

journal_volume

17

pub_type

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