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  Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12.

Draaken, M., Mughal, S. S., Pennimpede, T., Wolter, S., Wittler, L., Ebert, A.-K., et al. (2013). Isolated bladder exstrophy associated with a de novo 0.9 Mb microduplication on chromosome 19p13.12. Birth Defects Research, Part A: Clinical and Molecular Teratology, 97(3), 133-139. doi:10.1002/bdra.23112.

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Draaken, Markus1, Author
Mughal, Sadaf S. 2, Author
Pennimpede, Tracie3, Author              
Wolter, Stefanie4, Author              
Wittler, Lars5, Author              
Ebert, Anne-Karoline6, Author
Rösch, Wolfgang6, Author
Stein, Raimund7, Author
Bartels, Enrika1, Author
Schmidt, Dominik1, Author
Boemers, Thomas M. 8, Author
Schmiedeke, Eberhard1, Author
Hoffmann, Per1, Author
Moebus, Susanne9, Author
Herrmann, Bernhard G.3, Author              
Nöthen, Markus M.1, Author
Reutter, Heiko1, Author
Ludwig, Michael10, Author
Affiliations:
1Institute of Human Genetics, University of Bonn, Bonn, Germany, ou_persistent22              
2Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany, ou_persistent22              
3Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr. 73, Berlin, Germany, ou_1433548              
4Dept. of Developmental Genetics (Head: Bernhard G. Herrmann), Max Planck Institute for Molecular Genetics, Max Planck Society, Ihnestr. 73, Berlin, Germany, ou_1479663              
5Research Group of Developmental Biology, MPI for biophysical chemistry, Max Planck Society, Ihnestr. 73, Berlin, Germany, ou_578586              
6Department of Pediatric Urology, St. Hedwig Hospital Barmherzige Brüder, Regensburg, Germany, ou_persistent22              
7Department of Urology, University of Mainz, Mainz, Germany, ou_persistent22              
8Department of Pediatric Surgery and Pediatric Urology, Children's Hospital Cologne, Cologne, Germany, ou_persistent22              
9nstitute of Medical Informatics, Biometry and Epidemiology, University Hospital Essen, Duisburg-Essen, Germany, ou_persistent22              
10Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany, ou_persistent22              

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 Abstract: The exstrophy-epispadias complex (BEEC) is a urogenital birth defect of varying severity. The causes of the BEEC are likely to be heterogeneous, with individual environmental or genetic risk factors still being largely unknown. In this study, we aimed to identify de novo causative copy number variations (CNVs) that contribute to the BEEC. METHODS Array-based molecular karyotyping was performed to screen 110 individuals with BEEC. Promising CNVs were tested for de novo occurrence by investigating parental DNAs. Genes located in regions of rearrangements were prioritized through expression analysis in mice to be sequenced in the complete cohort, to identify high-penetrance mutations involving small sequence changes. RESULTS A de novo 0.9 Mb microduplication involving chromosomal region 19p13.12 was identified in a single patient. This region harbors 20 validated RefSeq genes, and in situ hybridization data showed specific expression of the Wiz gene in regions surrounding the cloaca and the rectum between GD 9.5 and 13.5. Sanger sequencing of the complete cohort did not reveal any pathogenic alterations affecting the coding region of WIZ. CONCLUSIONS The present study suggests chromosomal region 19p13.12 as possibly involved in the development of CBE, but further studies are needed to prove a causal relation. The spatiotemporal expression patterns determined for the genes encompassed suggest a role for Wiz in the development of the phenotype. Our mutation screening, however, could not confirm that WIZ mutations are a frequent cause of CBE, although rare mutations might be detectable in larger patient samples.

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Language(s): eng - English
 Dates: 2013-03
 Publication Status: Published in print
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 Rev. Type: Peer
 Identifiers: DOI: 10.1002/bdra.23112
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Title: Birth Defects Research, Part A: Clinical and Molecular Teratology
Source Genre: Journal
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Pages: - Volume / Issue: 97 (3) Sequence Number: - Start / End Page: 133 - 139 Identifier: -