Universität zu Köln

Zhang, Rong, Marsch, Florian, Kause, Franziska, Degenhardt, Franziska, Schmiedeke, Eeberhard, Maerzheuser, Stefanie, Hoppe, Bernd, Bachour, Haitham, Boemers, Thomas M., Schaefer, Matthias, Spychalski, Nicole, Neser, Joerg, Leonhardt, Johannes, Kosch, Ferdinand, Ure, Benno, Gomez, Barbara, Lacher, Martin, Deffaa, Oliver J., Palta, Markus, Wittekindt, Boris, Kleine, Katharina, Schmedding, Andrea ORCID: 0000-0002-7796-3329, Grasshoff-Derr, Sabine, van der Ven, Amelie, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Zwink, Nadine, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784, Ludwig, Michael and Reutter, Heiko ORCID: 0000-0002-3591-5265 (2017). Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations. Birth Defects Res., 109 (13). S. 1063 - 1070. HOBOKEN: WILEY. ISSN 2472-1727

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Abstract

BackgroundThe acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes. MethodsTo detect further causative CNVs we performed array based molecular karyotyping in 75 VATER/VACTERL and 40 VATER/VACTERL-like patients. ResultsFollowing the application of stringent filter criteria, we identified 13 microdeletions and seven microduplications in 20 unrelated patients all of which were absent in 1,307 healthy inhouse controls (n < 0.0008). Among these, microdeletion at 17q12 was confirmed to be de novo. Three microdeletions at 5q23.1, 16q23.3, 22q11.21, and one microduplication at 10q11.21 were all absent in the available parent. Microdeletion of chromosomal region 22q11.21 was previously found in VATER/VACTERL patients rendering it to be causative in our patient. The remaining 15 CNVs were inherited from a healthy parent. ConclusionIn two of 115 patients' causative CNVs were found (2%). The remaining identified rare CNVs represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial VATER/VACTERL or VATER/VACTERL-like phenotypes. Birth Defects Research 109:1063-1069, 2017. (c) 2017 Wiley Periodicals, Inc.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Zhang, Rong UNSPECIFIED UNSPECIFIED UNSPECIFIED Marsch, Florian UNSPECIFIED UNSPECIFIED UNSPECIFIED Kause, Franziska UNSPECIFIED UNSPECIFIED UNSPECIFIED Degenhardt, Franziska UNSPECIFIED UNSPECIFIED UNSPECIFIED Schmiedeke, Eeberhard UNSPECIFIED UNSPECIFIED UNSPECIFIED Maerzheuser, Stefanie UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoppe, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED Bachour, Haitham UNSPECIFIED UNSPECIFIED UNSPECIFIED Boemers, Thomas M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schaefer, Matthias UNSPECIFIED UNSPECIFIED UNSPECIFIED Spychalski, Nicole UNSPECIFIED UNSPECIFIED UNSPECIFIED Neser, Joerg UNSPECIFIED UNSPECIFIED UNSPECIFIED Leonhardt, Johannes UNSPECIFIED UNSPECIFIED UNSPECIFIED Kosch, Ferdinand UNSPECIFIED UNSPECIFIED UNSPECIFIED Ure, Benno UNSPECIFIED UNSPECIFIED UNSPECIFIED Gomez, Barbara UNSPECIFIED UNSPECIFIED UNSPECIFIED Lacher, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Deffaa, Oliver J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Palta, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Wittekindt, Boris UNSPECIFIED UNSPECIFIED UNSPECIFIED Kleine, Katharina UNSPECIFIED UNSPECIFIED UNSPECIFIED Schmedding, Andrea UNSPECIFIED orcid.org/0000-0002-7796-3329 UNSPECIFIED Grasshoff-Derr, Sabine UNSPECIFIED UNSPECIFIED UNSPECIFIED van der Ven, Amelie UNSPECIFIED UNSPECIFIED UNSPECIFIED Heilmann-Heimbach, Stefanie UNSPECIFIED orcid.org/0000-0003-1057-465X UNSPECIFIED Zwink, Nadine UNSPECIFIED UNSPECIFIED UNSPECIFIED Jenetzky, Ekkehart UNSPECIFIED orcid.org/0000-0001-5415-8784 UNSPECIFIED Ludwig, Michael UNSPECIFIED UNSPECIFIED UNSPECIFIED Reutter, Heiko UNSPECIFIED orcid.org/0000-0002-3591-5265 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-224949
DOI:	10.1002/bdr2.1042
Journal or Publication Title:	Birth Defects Res.
Volume:	109
Number:	13
Page Range:	S. 1063 - 1070
Date:	2017
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	2472-1727
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language ESOPHAGEAL ATRESIA; TRACHEOESOPHAGEAL FISTULA; ANAL ATRESIA; ANORECTAL-MALFORMATIONS; VERTEBRAL DEFECTS; ASSOCIATION; PHENOTYPE; ANOMALIES; DELETION; MICRODUPLICATIONS Multiple languages Developmental Biology; Toxicology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22494