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  Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region

Draaken, M., Baudisch, F., Timmermann, B., Kuhl, H., Kerick, M., Proske, J., et al. (2014). Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region. Birth Defects Research Part A: Clinical and Molecular Teratology, 100(6), 512-517. doi:10.1002/bdra.23249.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0026-A80E-E Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0027-A6C5-F
Genre: Journal Article

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 Creators:
Draaken, M., Author
Baudisch, F., Author
Timmermann, B.1, Author              
Kuhl, H.1, Author              
Kerick, M.1, Author              
Proske, J., Author
Wittler, L.2, Author              
Pennimpede, T.2, Author              
Ebert, A. K., Author
Rösch, W., Author
Stein, R., Author
Bartels, E., Author
von Lowtzow, C., Author
Boemers, T. M., Author
Herms, S., Author
Gearhart, J. P., Author
Lakshmanan, Y., Author
Kockum, C. C., Author
Holmdahl, G., Author
Läckgren, G., Author
Nordenskjöld, A., AuthorBoyadjiev, S. A., AuthorHerrmann, B. G.2, Author              Nöthen, M. M., AuthorLudwig, M., AuthorReutter, H., Author more..
Affiliations:
1Sequencing (Head: Bernd Timmermann), Scientific Service (Head: Christoph Krukenkamp), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479670              
2Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433548              

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Free keywords: chromosome 22q11.2; duplication; bladder exstrophy and epispadias complex (BEEC); classic bladder exstrophy (CBE); copy number variation
 Abstract: Background Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Methods Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. Results New duplications of variable size were identified in four CBE patients and one control. Pooling of our previous and present data (eight duplications in 313 CBE patients) yielded a combined odds ratio of 31.86 (95% confidence interval, 4.24–1407.97). Array-based sequence capture and high-throughput targeted re-sequencing established that all breakpoints resided within the low-copy repeats 22A to 22D. Comparison of the eight duplications revealed a 414 kb phenocritical region harboring 12 validated RefSeq genes. Characterization of these 12 candidate genes through whole-mount in situ hybridization of mouse embryos at embryonic day 9.5 suggested that CRKL, THAP7, and LZTR1 are CBE candidate genes. Conclusion Our data suggest that duplication of 22q11.21 increases CBE risk and implicate a phenocritical region in disease formation.

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Language(s): eng - English
 Dates: 2014-04-252014-06
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1002/bdra.23249
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Title: Birth Defects Research Part A: Clinical and Molecular Teratology
Source Genre: Journal
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Publ. Info: Wiley Periodicals, Inc.
Pages: - Volume / Issue: 100 (6) Sequence Number: - Start / End Page: 512 - 517 Identifier: -