LRIG2 Mutations Cause Urofacial Syndrome

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• 作者：Helen M. Stuart¹ ; Neil A. Roberts¹ ; ² ; Berk Burgu⁴ ; Sarah B. Daly¹ ; Jill E. Urquhart¹ ; Sanjeev Bhaskar¹ ; Jonathan E. Dickerson¹ ; Murat Mermerkaya⁴ ; Mesrur Selcuk Silay⁶ ; Malcolm A. Lewis² ; M. Beatriz Orive Olondriz⁷ ; Blanca Gener⁸ ; Christian Beetz⁹ ; Rita E. Varga⁹ ; Ö ; mer Gü ; lp?nar⁴ ; Evren Sü ; er⁴ ; Tarkan Soygü ; r⁴ ; Zeynep B. Ö ; zç ; akar⁴ ; Fato? Yalç ; ?nkaya⁵ ; Asl? Kavaz⁵ ; Burcu Bulum⁵ ; Adnan Gü ; cü ; k¹⁰ ; Wyatt W. Yue¹¹ ; Firat Erdogan¹² ; Andrew Berry³ ; Neil A. Hanley³ ; Edward A. McKenzie¹³ ; Emma N. Hilton¹ ; Adrian S. Woolf² ; ¹⁴ ; William G. Newman¹ ; ¹⁴ ; ^{william.newman@manchester.ac.uk}
• 刊名：The American Journal of Human Genetics
• 出版年：2013
• 出版时间：7 February, 2013
• 年：2013
• 卷：92
• 期：2
• 页码：259-264
• 全文大小：938 K

文摘

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.