Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy
(2023) In American Journal of Medical Genetics, Part A 191(2). p.378-390- Abstract
Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%–3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly. We have performed chromosomal microarray analysis on a cohort of 140 persons born with bladder exstrophy to look for submicroscopic chromosomal deletions and duplications. Pathogenic or possibly pathogenic microdeletions or duplications were found in 16 patients (11.4%) and further 9 with unknown significance. Two findings were in... (More)
Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%–3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly. We have performed chromosomal microarray analysis on a cohort of 140 persons born with bladder exstrophy to look for submicroscopic chromosomal deletions and duplications. Pathogenic or possibly pathogenic microdeletions or duplications were found in 16 patients (11.4%) and further 9 with unknown significance. Two findings were in regions linked to known syndromes, two findings involved the same gene (MCC), and all other findings were unique. A closer analysis suggests a few gene networks that are involved in the pathogenesis of bladder exstrophy; the WNT-signaling pathway, the chromosome 22q11 region, the RIT2 and POU families, and involvement of the Golgi apparatus. Bladder exstrophy is a rare malformation and is reported to be associated with several chromosome aberrations. Our data suggest involvement of some specific molecular pathways.
(Less)
- author
- Nordenskjöld, Agneta ; Arkani, Samara ; Pettersson, Maria ; Winberg, Johanna ; Cao, Jia ; Fossum, Magdalena ; Anderberg, Magnus LU ; Barker, Gillian ; Holmdahl, Gundela and Lundin, Johanna
- organization
- publishing date
- 2023
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- bladder exstrophy, chromosome, CMA, genetic
- in
- American Journal of Medical Genetics, Part A
- volume
- 191
- issue
- 2
- pages
- 378 - 390
- publisher
- John Wiley & Sons Inc.
- external identifiers
-
- scopus:85141564972
- pmid:36349425
- ISSN
- 1552-4825
- DOI
- 10.1002/ajmg.a.63031
- language
- English
- LU publication?
- yes
- id
- 9a070a17-694a-4be1-afaf-0dc94a27cc1a
- date added to LUP
- 2022-12-09 13:50:19
- date last changed
- 2024-08-08 18:02:10
@article{9a070a17-694a-4be1-afaf-0dc94a27cc1a, abstract = {{<p>Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%–3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly. We have performed chromosomal microarray analysis on a cohort of 140 persons born with bladder exstrophy to look for submicroscopic chromosomal deletions and duplications. Pathogenic or possibly pathogenic microdeletions or duplications were found in 16 patients (11.4%) and further 9 with unknown significance. Two findings were in regions linked to known syndromes, two findings involved the same gene (MCC), and all other findings were unique. A closer analysis suggests a few gene networks that are involved in the pathogenesis of bladder exstrophy; the WNT-signaling pathway, the chromosome 22q11 region, the RIT2 and POU families, and involvement of the Golgi apparatus. Bladder exstrophy is a rare malformation and is reported to be associated with several chromosome aberrations. Our data suggest involvement of some specific molecular pathways.</p>}}, author = {{Nordenskjöld, Agneta and Arkani, Samara and Pettersson, Maria and Winberg, Johanna and Cao, Jia and Fossum, Magdalena and Anderberg, Magnus and Barker, Gillian and Holmdahl, Gundela and Lundin, Johanna}}, issn = {{1552-4825}}, keywords = {{bladder exstrophy; chromosome; CMA; genetic}}, language = {{eng}}, number = {{2}}, pages = {{378--390}}, publisher = {{John Wiley & Sons Inc.}}, series = {{American Journal of Medical Genetics, Part A}}, title = {{Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy}}, url = {{http://dx.doi.org/10.1002/ajmg.a.63031}}, doi = {{10.1002/ajmg.a.63031}}, volume = {{191}}, year = {{2023}}, }