WNT6 – Bladder Exstrophy

A recent candidate gene study using massively parallel sequencing in 20 bladder exstrophy patients (PMID:26105184) evaluated multiple WNT pathway genes and identified 13 variants across several genes. WNT6 (HGNC:12785) was included among these genes, and although no specific pathogenic variants or detailed segregation data were reported for WNT6, its inclusion in the affected gene panel supports a potential, albeit preliminary, role in the etiology of bladder exstrophy. The study design suggests that disrupted WNT signaling may be contributory, with WNT6 representing a candidate gene whose genetic contribution requires further validation through additional case-level data and segregation analysis.

Given the absence of direct functional assays or independently reported variants for WNT6 in bladder exstrophy, the current body of evidence places the gene-disease association in the Limited category. Nonetheless, the convergence of multi-gene sequencing data and the known importance of the WNT pathway in urinary development provide a rationale for continued investigation. Key take‑home sentence: While WNT6 is a promising candidate for involvement in bladder exstrophy, further case accumulation and functional studies are needed to robustly support its clinical utility.

References

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

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