دورية أكاديمية
CNV analysis in 169 patients with bladder exstrophy-epispadias complex.
العنوان: | CNV analysis in 169 patients with bladder exstrophy-epispadias complex. |
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المؤلفون: | von Lowtzow C; Institute of Human Genetics, University of Bonn, Bonn, Germany., Hofmann A; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany., Zhang R; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany., Marsch F; Institute of Human Genetics, University of Bonn, Bonn, Germany., Ebert AK; Department of Urology and Pediatric Urology, Ulm, Germany., Rösch W; Department of Pediatric Urology, St. Hedwig Hospital Barmherzige Brüder, Regensburg, Germany., Stein R; Department of Pediatric and Adolescent Urology, University of Mannheim, Mannheim, Germany., Boemers TM; Department of Pediatric Surgery and Pediatric Urology, Children's Hospital of Cologne, Cologne, Germany., Hirsch K; Department of Urology, Division of Pediatric Urology, University of Erlangen-Nürnberg, Erlangen, Germany., Marcelis C; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Feitz WF; Pediatric Urology Center, Department of Urology, Radboud University Medical Centre, Nijmegen, The Netherlands., Brusco A; Department of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino, Torino, Italy., Migone N; Department of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino, Torino, Italy., Di Grazia M; Institute for Maternal and Child Health, IRCCS Burlo Garofalo, Trieste, Italy., Moebus S; Institute of Medical Informatics, Biometry, and Epidemiology, University Hospital of Essen, University Duisburg-Essen, Essen, Germany., Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany., Reutter H; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, University of Bonn, Bonn, Germany., Ludwig M; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Sigmund-Freud-Str. 25, Bonn, D-53127, Germany. mludwig@uni-bonn.de., Draaken M; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, Bonn, Germany. |
المصدر: | BMC medical genetics [BMC Med Genet] 2016 Apr 30; Vol. 17 (1), pp. 35. Date of Electronic Publication: 2016 Apr 30. |
نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
اللغة: | English |
بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: London : BioMed Central, [2000- |
مواضيع طبية MeSH: | DNA Copy Number Variations*, Bladder Exstrophy/*genetics , Cytogenetic Analysis/*methods , Oligonucleotide Array Sequence Analysis/*methods, Aneuploidy ; Chromosome Disorders/genetics ; Chromosome Duplication ; Chromosomes, Human, Pair 22/genetics ; Eye Abnormalities/genetics ; Female ; Humans ; Male ; Maternal Inheritance ; Paternal Inheritance |
مستخلص: | 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. |
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فهرسة مساهمة: | Keywords: Bladder exstrophy-epispadias complex; Copy number variation; EFNB1; Genetic testing |
SCR Disease Name: | Schmid-Fraccaro syndrome |
تواريخ الأحداث: | Date Created: 20160504 Date Completed: 20170502 Latest Revision: 20181113 |
رمز التحديث: | 20231215 |
مُعرف محوري في PubMed: | PMC4852408 |
DOI: | 10.1186/s12881-016-0299-x |
PMID: | 27138190 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1471-2350 |
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DOI: | 10.1186/s12881-016-0299-x |