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urofacial syndrome

Friday 11 January 2013

Ochoa syndrome

Urofacial syndrome (UFS) (or Ochoa syndrome) is an autosomal-recessive disease characterized by congenital urinary bladder dysfunction, associated with a significant risk of kidney failure, and an abnormal facial expression upon smiling, laughing, and crying.

Etiology

- LRIG2 Mutations Cause Urofacial Syndrome. (doi:10.1016/j.ajhg.2012.12.002 )

  • Rare variants in LRIG2 might be relevant to nonsyndromic bladder disease.
  • UFS is also caused by mutations in HPSE2, encoding heparanase-2.
  • LRIG2 and heparanase-2 are immunodetected in nerve fascicles growing between muscle bundles within the human fetal bladder, directly implicating both molecules in neural development in the lower urinary tract.