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WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish.

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Summary

WNT gene variants are linked to bladder exstrophy-epispadias complex (BEEC). A specific WNT3 mutation caused cloaca malformations in zebrafish, suggesting WNT3

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Area of Science:

  • Genetics
  • Developmental Biology
  • Urology

Background:

  • Bladder exstrophy is a severe congenital urological malformation, the most common form of bladder exstrophy-epispadias complex (BEEC).
  • Recent research suggests a potential role for WNT genes in the etiology of bladder exstrophy.

Purpose of the Study:

  • To investigate the involvement of WNT-pathway genes in the development of bladder exstrophy-epispadias complex (BEEC).
  • To identify specific genetic variants within WNT genes associated with BEEC.

Main Methods:

  • Massively parallel sequencing was performed on DNA from 20 bladder exstrophy patients.
  • WNT gene variants were identified and predicted for pathogenicity.
  • Zebrafish models were used to study the functional impact of a WNT3 variant.
  • Additional BEEC cases were screened for WNT3 mutations.

Main Results:

  • Thirteen potentially disease-causing variants were identified in WNT pathway genes, including novel variants.
  • A de novo WNT3 variant (p.Cys91Arg) led to cloaca malformations in zebrafish.
  • Overexpression of the mutant WNT3 RNA did not cause embryonic lethality, unlike wild-type.
  • An additional WNT3 mutation (p.Gly213Asp) was identified in a BEEC patient.

Conclusions:

  • The findings support the involvement of WNT-pathway genes in the pathogenesis of BEEC.
  • WNT3 is implicated as a rare but significant genetic cause of BEEC.
  • The study highlights the functional impact of WNT3 variants in embryonic development.