Neurogenic Defects Occur in LRIG2-Associated Urinary Bladder Disease

Putting this family in the context of all reported UT disease-associated variants, the full UFS phenotype occurs with biallelic stop or frameshift variants, but missense variants lead to bladder-limited disease. Our murine observations support the hypothesis that UFS is a genetic autonomic neuropathy of the bladder affecting outflow tract and bladder body function.