Urinary tract effects of HPSE2 mutations
Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE...
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| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2015
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| In: |
Journal of the American Society of Nephrology
Year: 2015, Jahrgang: 26, Heft: 4, Pages: 797-804 |
| ISSN: | 1533-3450 |
| DOI: | 10.1681/ASN.2013090961 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: http://dx.doi.org/10.1681/ASN.2013090961 Verlag, kostenfrei, Volltext: http://jasn.asnjournals.org/content/26/4/797 
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| Verfasserangaben: | Helen M. Stuart, Neil A. Roberts, Emma N. Hilton, Edward A. McKenzie, Sarah B. Daly, Kristen D. Hadfield, Jeffery S. Rahal, Natalie J. Gardiner, Simon W. Tanley, Malcolm A. Lewis, Emily Sites, Brad Angle, Cláudia Alves, Teresa Lourenço, Márcia Rodrigues, Angelina Calado, Marta Amado, Nancy Guerreiro, Inês Serras, Christian Beetz, Rita-Eva Varga, Mesrur Selcuk Silay, John M. Darlow, Mark G. Dobson, David E. Barton, Manuela Hunziker, Prem Puri, Sally A. Feather, Judith A. Goodship, Timothy H. J. Goodship, Heather J. Lambert, Heather J. Cordell, the UK VUR Study Group, Anand Saggar, Maria Kinali, the 4C Study Group, Christian Lorenz, Kristina Moeller, Franz Schaefer, Aysun K. Bayazit, Stefanie Weber, William G. Newman, Adrian S. Woolf |
| Zusammenfassung: | Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum is limited. Here, seven UFS kindreds with HPSE2 mutations are presented, including one with deleted asparagine 254, suggesting a role for this amino acid, which is conserved in vertebrate orthologs. HPSE2 mutations were absent in 23 non-neurogenic neurogenic bladder probands and, of 439 families with nonsyndromic vesicoureteric reflux, only one carried a putative pathogenic HPSE2 variant. Homozygous Hpse2 mutant mouse bladders contained urine more often than did wild-type organs, phenocopying human UFS. Pelvic ganglia neural cell bodies contained heparanase 1, heparanase 2, and leucine-rich repeats and immunoglobulin-like domains-2 (LRIG2), which is mutated in certain UFS families. In conclusion, heparanase 2 is an autonomic neural protein implicated in bladder emptying, but HPSE2 variants are uncommon in urinary diseases resembling UFS. |
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| Beschreibung: | Published online before print August 21, 2014 Gesehen am 25.07.2017 |
| Beschreibung: | Online Resource |
| ISSN: | 1533-3450 |
| DOI: | 10.1681/ASN.2013090961 |