Neurogenic Defects Occur in <i>LRIG2</i>-Associated Urinary Bladder Disease.

ABSTRACT:

Introduction

Urofacial, or Ochoa, syndrome (UFS) is an autosomal recessive disease featuring a dyssynergic bladder with detrusor smooth muscle contracting against an undilated outflow tract. It also features an abnormal grimace. Half of individuals with UFS carry biallelic variants in HPSE2, whereas other rare families carry variants in LRIG2.LRIG2 is immunodetected in pelvic ganglia sending autonomic axons into the bladder. Moreover, Lrig2 mutant mice have abnormal urination and abnormally patterned bladder nerves. We hypothesized that peripheral neurogenic defects underlie LRIG2-associated bladder dysfunction.

Methods

We describe a new family with LRIG2-associated UFS and studied Lrig2 homozygous mutant mice with ex vivo<

SUBMITTER: Grenier C 

PROVIDER: S-EPMC10334403 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature