WNT8B and Bladder Exstrophy

This summary evaluates the association between WNT8B (HGNC:12789) and bladder exstrophy (MONDO_0010805). In a screening study of 20 bladder exstrophy patients (PMID:26105184), WNT8B was included in a panel of WNT‐pathway genes, although no gene‑specific pathogenic coding variants or segregation evidence were reported. The multi‑gene approach identified a total of 13 variants across several WNT‐related genes; however, subsequent analyses only highlighted variants in other family members (e.g., WNT3), leaving the contribution of WNT8B to bladder exstrophy uncertain. No additional case reports, familial segregation data, or independent replication studies have since strengthened the role of WNT8B in this phenotype. Functional studies in the related publication focused on zebrafish models with alterations in other WNT genes, with no direct assays addressing WNT8B’s function in urinary tract development. Furthermore, although WNT8B has been implicated in other disease contexts through mutation analysis and promoter studies, such evidence does not extend to bladder exstrophy.

Taken together, the current evidence suggests a limited genetic and experimental support for the association between WNT8B and bladder exstrophy. The lack of discrete WNT8B mutations and the absence of corroborative functional data restrict its utility in diagnostic decision‑making at this time. Further targeted studies, including gene‑specific variant analyses and functional validation experiments, are required to clarify any role of WNT8B in bladder exstrophy.

Key Take‑home sentence: While WNT8B is included in gene panel screens for bladder exstrophy, the current evidence does not robustly support its independent clinical utility in this context.

References

• Human molecular genetics • 2015 • WNT3 involvement in human bladder exstrophy and cloaca development in zebrafish PMID:26105184

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