LRIG2 Mutations Cause Urofacial Syndrome
| Autor: | Malcolm A. Lewis, William G. Newman, Sanjeev S. Bhaskar, Evren Süer, Wyatt W. Yue, Blanca Gener, Neil A. Roberts, Adnan Gucuk, Helen M. Stuart, Christian Beetz, Tarkan Soygür, Adrian S. Woolf, Jill E. Urquhart, M. Beatriz Orive Olondriz, Ömer Gülpınar, Neil A. Hanley, Burcu Bulum, Fırat Erdoğan, Aslı Kavaz, Fatoş Yalçınkaya, Zeynep Birsin Özçakar, Edward A. McKenzie, Sarah B. Daly, Mesrur Selcuk Silay, Emma Hilton, Rita Eva Varga, Berk Burgu, Andrew Berry, Murat Mermerkaya, Jonathan E. Dickerson |
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| Přispěvatelé: | BAİBÜ, Tıp Fakültesi, Cerrahi Tıp Bilimleri Bölümü, Gücük, Adnan |
| Rok vydání: | 2013 |
| Předmět: |
Male
Urologic Diseases Urinary system DNA Mutational Analysis Molecular Sequence Data Urinary Bladder 030232 urology & nephrology Disease LRIG2 Mutations Biology medicine.disease_cause Bioinformatics Urofacial Syndrome (UFS) 03 medical and health sciences 0302 clinical medicine Report Genetics medicine Humans Family Genetics(clinical) Urinary Bladder Neurogenic Child Genetics (clinical) 030304 developmental biology 0303 health sciences Mutation Kidney Membrane Glycoproteins Urinary bladder Base Sequence Urofacial syndrome LRIG2 Facies Infant medicine.disease Immunohistochemistry Pedigree 3. Good health medicine.anatomical_structure Child Preschool Female Carcinogenesis Neural development Mutations |
| Zdroj: | The American Journal of Human Genetics. 92:259-264 |
| ISSN: | 0002-9297 |
| Popis: | WOS:000315179600010 PubMed: 23313374 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. |
| Databáze: | OpenAIRE |
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