Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.
CMA
bladder exstrophy
chromosome
genetic
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
02 2023
02 2023
Historique:
revised:
05
08
2022
received:
04
07
2022
accepted:
07
10
2022
pubmed:
10
11
2022
medline:
13
1
2023
entrez:
9
11
2022
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 36349425
doi: 10.1002/ajmg.a.63031
pmc: PMC10100507
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
378-390Informations de copyright
© 2022 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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