Home > A. Molecular pathology > LRIG2



Friday 11 January 2013

info leucine-rich repeats and immunoglobulin-like domains 2


- LRIG2 Mutations Cause Urofacial Syndrome. (doi : 10.1016/j.ajhg.2012.12 002 )

  • 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.
  • 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.

- Correlation between LRIG1 and LRIG2 expressions and expression of 11 tumor markers, with special reference to tumor suppressors, in CIN and normal cervical epithelium. (# 21632100#)