Urinary Tract Effects of HPSE2 Mutations

• DOI: 10.1681/asn.2013090961
• Publication Date: 2014-08-22T02:35:36Z
• Authors: 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. Good...; Heather J. Lambert; Heather J. Cordell; Anand Saggar; Maria Kinali; Christian Lorenz; Kristina Moeller; Franz Schaefer; Aysun K. Bayazit; Stefanie Weber; William G. Newman; Adrian S. Woolf
• Keywords: Heparanase; Proband

Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a 1 inhibitor, occur in UFS, but knowledge about the HPSE2 mutation spectrum limited. Here, seven UFS kindreds with mutations are presented, including one deleted asparagine 254, suggesting role for this amino acid, which conserved vertebrate orthologs. were absent 23 non-neurogenic neurogenic probands and, 439 families nonsyndromic vesicoureteric reflux, only carried putative pathogenic variant. Homozygous Hpse2 mutant mouse bladders contained urine more often than did wild-type organs, phenocopying human UFS. Pelvic ganglia neural cell bodies 1, leucine-rich repeats immunoglobulin-like domains-2 (LRIG2), mutated certain families. In conclusion, 2 autonomic protein implicated emptying, variants uncommon urinary diseases resembling