دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: CNV analysis in 169 patients with bladder exstrophy-epispadias complex.
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.
References: BJU Int. 2004 Dec;94(9):1337-43. (PMID: 15610117)
PLoS Genet. 2015 Mar;11(3):e1005024. (PMID: 25763902)
Eur J Med Genet. 2005 Apr-Jun;48(2):131-44. (PMID: 16053904)
Nature. 2006 Nov 23;444(7118):444-54. (PMID: 17122850)
Nucleic Acids Res. 2007;35(6):2013-25. (PMID: 17341461)
Hum Mutat. 2007 Oct;28(10):1034-42. (PMID: 17546640)
Hum Mol Genet. 2007 Oct 15;16 Spec No. 2:R168-73. (PMID: 17911159)
Hum Genet. 2007 Nov;122(3-4):345-53. (PMID: 17638019)
Am J Med Genet A. 2008 Feb 1;146A(3):337-42. (PMID: 18203171)
J Urol. 2008 Apr;179(4):1539-43. (PMID: 18295266)
Birth Defects Res A Clin Mol Teratol. 2009 Jun;85(6):509-22. (PMID: 19161161)
Orphanet J Rare Dis. 2009;4:23. (PMID: 19878548)
Am J Med Genet A. 2010 Feb;152A(2):504-11. (PMID: 20101692)
Eur J Med Genet. 2010 Mar-Apr;53(2):61-5. (PMID: 20045748)
Am Heart J. 2002 Aug;144(2):212-8. (PMID: 12177636)
Nucleic Acids Res. 2004 Jan 1;32(Database issue):D552-6. (PMID: 14681479)
Am J Med Genet A. 2004 Apr 30;126A(3):303-7. (PMID: 15054847)
Am J Hum Genet. 2004 Jun;74(6):1209-15. (PMID: 15124102)
Dev Biol. 2004 Jul 15;271(2):272-90. (PMID: 15223334)
Eur J Med Genet. 2010 Mar-Apr;53(2):55-60. (PMID: 20060941)
Rev Pediatr Obstet Ginecol Pediatr. 1976 Jul-Sep;25(3):201-10. (PMID: 11544)
J Urol. 1987 Oct;138(4 Pt 2):1060-4. (PMID: 3656560)
Am J Med Genet Suppl. 1988;4:161-6. (PMID: 3144983)
Prenat Diagn. 1991 Nov;11(11):867-73. (PMID: 1754557)
Am J Med Genet. 1996 Jan 2;61(1):75-8. (PMID: 8741924)
Br J Urol. 1998 Dec;82(6):865-9. (PMID: 9883226)
Pediatrics. 1999 Apr;103(4 Pt 1):830-6. (PMID: 10103318)
PLoS One. 2010;5(10):e15392. (PMID: 21048976)
Am J Med Genet A. 2011 Jan;155A(1):38-49. (PMID: 21204209)
Hum Genet. 2011 May;129(5):513-9. (PMID: 21225285)
Hum Mutat. 2011 Aug;32(8):930-8. (PMID: 21542058)
Am J Med Genet C Semin Med Genet. 2011 Nov 15;157C(4):321-32. (PMID: 22002949)
Eur J Med Genet. 2012 Jan;55(1):43-8. (PMID: 22061479)
Gene. 2012 Sep 15;506(2):360-8. (PMID: 22766398)
Nucleic Acids Res. 2013 Jan;41(Database issue):D64-9. (PMID: 23155063)
PLoS One. 2013;8(1):e54799. (PMID: 23372768)
Birth Defects Res A Clin Mol Teratol. 2013 Mar;97(3):133-9. (PMID: 23359465)
J Pediatr Urol. 2013 Dec;9(6 Pt B):996-1005. (PMID: 23743131)
Gene. 2014 Feb 1;535(1):60-9. (PMID: 24239551)
Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92. (PMID: 24174537)
Birth Defects Res A Clin Mol Teratol. 2014 Jun;100(6):512-7. (PMID: 24764164)
PLoS One. 2014;9(9):e107028. (PMID: 25203062)
Hum Mol Genet. 2014 Oct 15;23(20):5536-44. (PMID: 24852367)
Eur J Pediatr Surg. 2014 Aug;24(4):353-9. (PMID: 23801353)
Am J Med Genet A. 2005 Jun 1;135(2):224-6. (PMID: 15887303)
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
الوصف
تدمد:1471-2350
DOI:10.1186/s12881-016-0299-x