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Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

Nordenskjöld, Agneta ; Arkani, Samara ; Pettersson, Maria ; Winberg, Johanna ; Cao, Jia ; Fossum, Magdalena ; Anderberg, Magnus LU orcid ; Barker, Gillian ; Holmdahl, Gundela and Lundin, Johanna (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.

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; ; ; ; ; ; ; ; and
organization
publishing date
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
2024-06-27 14:33:25
@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}},
}