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#)