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LRIG2 mutations cause urofacial syndrome.

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.

SUBMITTER: Stuart HM

PROVIDER: S-EPMC3567269 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature

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LRIG2 mutations cause urofacial syndrome.

Stuart Helen M HM Roberts Neil A NA Burgu Berk B Daly Sarah B SB Urquhart Jill E JE Bhaskar Sanjeev S Dickerson Jonathan E JE Mermerkaya Murat M Silay Mesrur Selcuk MS Lewis Malcolm A MA Olondriz M Beatriz Orive MB Gener Blanca B Beetz Christian C Varga Rita E RE Gülpınar Omer O Süer Evren E Soygür Tarkan T Ozçakar Zeynep B ZB Yalçınkaya Fatoş F Kavaz Aslı A Bulum Burcu B Gücük Adnan A Yue Wyatt W WW Erdogan Firat F Berry Andrew A Hanley Neil A NA McKenzie Edward A EA Hilton Emma N EN Woolf Adrian S AS Newman William G WG

American journal of human genetics 20130111 2

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 de ...[more]

PMID: 23313374

Dataset Information

LRIG2 mutations cause urofacial syndrome.

Publications

LRIG2 mutations cause urofacial syndrome.

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