LRIG2 mutations cause urofacial syndrome

Stuart, H. M. et al. (2013) LRIG2 mutations cause urofacial syndrome. American Journal of Human Genetics, 92(2), pp. 259-264. (doi: 10.1016/j.ajhg.2012.12.002) (PMID:23313374) (PMCID:PMC3567269)

Abstract

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. We report that a subset of UFS-affected individuals have biallelic mutations in LRIG2, encoding leucine-rich repeats and immunoglobulin-like domains 2, a protein implicated in neural cell signaling and tumorigenesis. Importantly, we have demonstrated that rare variants in LRIG2 might be relevant to nonsyndromic bladder disease. We have previously shown that UFS is also caused by mutations in HPSE2, encoding heparanase-2. LRIG2 and heparanase-2 were 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.

• Item Type: Articles
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Dickerson, Dr Jonathan
• Authors: Stuart, H. M., Roberts, N. A., Burgu, B., Daly, S. B., Urquhart, J. E., Bhaskar, S., Dickerson, J. E., Mermerkaya, M., Silay, M. S., Lewis, M. A., Olondriz, M. B. O., Gener, B., Beetz, C., Varga, R. E., Gülpınar, O., Süer, E., Soygür, T., Ozçakar, Z. B., Yalçınkaya, F., Kavaz, A., Bulum, B., Gücük, A., Yue, W. W., Erdogan, F., Berry, A., Hanley, N. A., McKenzie, E. A., Hilton, E. N., Woolf, A. S., and Newman, W. G.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
• Journal Name: American Journal of Human Genetics
• Publisher: Elsevier (Cell Press)
• ISSN: 0002-9297
• ISSN (Online): 1537-6605
• Published Online: 03 January 2013
• Copyright Holders: Copyright © 2013 The American Society of Human Genetics
• First Published: First published in American Journal of Human Genetics 92(2): 259-264
• Publisher Policy: Reproduced under a Creative Commons License