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LRIG2 mutations cause urofacial syndrome.

Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson JE, Mermerkaya M, Silay MS, Lewis MA, Olondriz MB, Gener B, Beetz C, Varga RE, Gülpınar O, Süer E, Soygür T, Ozçakar ZB, Yalçınkaya F, Kavaz A, Bulum B, Gücük A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG

American Journal of Human Genetics. 2013;92(2):259-264.

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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.

Bibliographic metadata

Type of resource:
Content type:
Publication status:
Accepted
Publication type:
Publication form:
Published date:
Abbreviated journal title:
ISSN:
Publisher:
Volume:
92
Issue:
2
Start page:
259
End page:
264
Total:
5
Pagination:
259-264
Digital Object Identifier:
10.1016/j.ajhg.2012.12.002
Funding awarded to University:
  • Wellcome Trust - E2
Funding awarded externally:
Funder(s) acknowledged in this article?:
Yes
PubMed Central deposit version:
publishers
Attached files embargo period:
Immediate release
Attached files release date:
3rd September, 2014
Access state:
Active

Institutional metadata

University researcher(s):

Record metadata

Manchester eScholar ID:
uk-ac-man-scw:232644
Created by:
Stuart, Helen
Created:
3rd September, 2014, 19:57:40
Last modified by:
Stuart, Helen
Last modified:
19th June, 2015, 19:05:52

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