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  De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association

Hilger, A., Schramm, C., Pennimpede, T., Wittler, L., Dworschak, G. C., Bartels, E., et al. (2013). De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. European journal of human genetics: EJHG; the official journal of the European Society of Human Genetics, 21(12), 1377-1382. doi:10.1038/ejhg.2013.58.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0019-0C48-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0019-0C4C-9
Genre: Journal Article

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 Creators:
Hilger, A., Author
Schramm, C., Author
Pennimpede, T.1, Author              
Wittler, L.2, Author              
Dworschak, G. C., Author
Bartels, E., Author
Engels, H., Author
Zink, A. M., Author
Degenhardt, F., Author
Müller, A. M., Author
Schmiedeke, E., Author
Grasshoff-Derr , S., Author
Märzheuser, S., Author
Hosie, S., Author
Holland-Cunz , S., Author
Wijers, C. H., Author
Marcelis, C. L., Author
van Rooij , I. A., Author
Hildebrandt, F., Author
Hermann, B. G.1, Author              
Nöthen, M. M., AuthorLudwig, M., AuthorReutter, H., AuthorDraaken, M., Author more..
Affiliations:
1Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr. 73, 14195 Berlin, Germany, ou_1433548              
2Transgene Unit (Head: Lars Wittler), Scientific Service (Head: Manuela B. Urban), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr, 73, 14195 Berlin, Germany, ou_1479663              

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Free keywords: VATER/VACTERL association; CNV analysis; microaberrations; candidate genes; SNP array; GPR35
 Abstract: The acronym VATER/VACTERL association describes the combination of at least three of the following congenital anomalies: vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia (TE), renal malformations (R), and limb defects (L). We aimed to identify highly penetrant de novo copy number variations (CNVs) that contribute to VATER/VACTERL association. Array-based molecular karyotyping was performed in a cohort of 41 patients with VATER/VACTERL association and 6 patients with VATER/VACTERL-like phenotype including all of the patients’ parents. Three de novo CNVs were identified involving chromosomal regions 1q41, 2q37.3, and 8q24.3 comprising one ( SPATA17 ), two ( CAPN10, GPR35 ), and three ( EPPK1 , PLEC , PARP10 ) genes, respectively. Pre-existing data from the literature prompted us to choose GPR35 and EPPK1 for mouse expression studies. Based on these studies, we prioritized GPR35 for sequencing analysis in an extended cohort of 192 patients with VATER/VACTERL association and VATER/VACTERL- like phenotype. Although no disease-causing mutation was identified, our mouse expression studies suggest GPR35 to be involved in the development of the VATER/VACTERL phenotype. Follow-up of GPR35 and the other genes comprising the identified duplications is warranted.

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Language(s): eng - English
 Dates: 2013-04-032013-12
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1038/ejhg.2013.58
 Degree: -

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Title: European journal of human genetics : EJHG ; the official journal of the European Society of Human Genetics
  Other : Eur. J. Hum. Genet.
Source Genre: Journal
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Affiliations:
Publ. Info: Basel : Karger
Pages: - Volume / Issue: 21 (12) Sequence Number: - Start / End Page: 1377 - 1382 Identifier: ISSN: 1018-4813
CoNE: /journals/resource/954925585277_1