Journal
EUROPEAN JOURNAL OF PEDIATRIC SURGERY
Volume 24, Issue 4, Pages 353-359Publisher
GEORG THIEME VERLAG KG
DOI: 10.1055/s-0033-1349056
Keywords
array-CGH; bladder exstrophy; MID1; SHOX; X chromosome rearrangement
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Funding
- Swedish Research Council
- HRH Crown Princess Lovisa Foundation
- Stockholm City Council
- Foundation Frimurare Barnhuset Stockholm
- Anders Otto Swards Foundation/Ulrika Eklunds Foundation
- Magn Bergvall Foundation
- Stiftelsen Samariten
- Stiftelsen Barnavard
- Karolinska Institutet
- Swedish Society of Medical Research
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Introduction Bladder exstrophy is a rare congenital malformation of the bladder and is believed to be a complex disorder with genetic and environmental background. We describe a young adult female with an isolated bladder exstrophy and with an X chromosome aberration. Patients and Methods Karyotyping identified an X chromosome rearrangement that was further characterized with array comparative genomic hybridization (CGH) and confirmed by multiplex ligation-dependent probe amplification and fluorescence in situ hybridization (FISH) analysis. Results The identified X chromosome rearrangement in our index patient consists of a gain of chromosomal material in region Xq26.3-> qter and loss in region Xp22.12->pter. This aberration was also carried by her mother and sister, none with bladder exstrophy. All three have a disproportionate short stature, as expected due to the deletion of one of the copies of the SHOX gene on Xp22.3. X-inactivation studies revealed a complete skewed inactivation pattern in carriers. Crossover events in the maternal germline furthermore resulted in different genetic material on the rearranged X chromosome between the index patient and her sister. Conclusion Our findings suggest an X-linked genetic risk factor for bladder exstrophy.
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