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

Nordenskjöld, A. (author)
Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
Arkani, S. (author)
Karolinska Institutet,Karolinska Institute,Danderyd Hospital
Pettersson, M. (author)
Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
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Winberg, J. (author)
Karolinska Institute,Karolinska University Hospital
Cao, J. (author)
Karolinska Institute
Fossum, M. (author)
Karolinska Institutet,Karolinska Institute,University of Copenhagen
Anderberg, Magnus (author)
Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Barnkirurgi,Forskargrupper vid Lunds universitet,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Pediatric surgery,Lund University Research Groups,Skåne University Hospital
Barker, G. (author)
Uppsala University Hospital
Holmdahl, Gundela, 1956 (author)
Karolinska Institutet,Karolinska Institute,Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Sahlgrenska Academy,Karolinska University Hospital,Queen Silvia Children’s Hospital
Lundin, J. (author)
Karolinska Institute,Karolinska University Hospital
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 (creator_code:org_t)
2022-11-08
2023
English.
In: American Journal of Medical Genetics, Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 191:2, s. 378-390
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  • Journal article (peer-reviewed)
Abstract Subject headings
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  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)

Keyword

bladder exstrophy
chromosome
CMA
genetic

Publication and Content Type

ref (subject category)
art (subject category)

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