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Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region.
Institute of Human Genetics, University of Bonn, Germany.
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2014 (English)In: Birth defects research. Clinical and molecular teratology, ISSN 1542-0752, E-ISSN 1542-0760, Vol. 100, no 6Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2014. Vol. 100, no 6
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-279323DOI: 10.1002/bdra.23249PubMedID: 24764164OAI: oai:DiVA.org:uu-279323DiVA: diva2:907841
Available from: 2016-02-29 Created: 2016-02-29 Last updated: 2016-02-29

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Läckgren, Göran
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