Urinary tract effects of HPSE2 mutations.

doi:10.1681/ASN.2013090961

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Article

Urinary tract effects of HPSE2 mutations.

Journal of the American Society of Nephrology : JASN - 1 Apr 2015

Stuart Helen M, Roberts Neil A, Hilton Emma N, McKenzie Edward A, Daly Sarah B, Hadfield Kristen D, Rahal Jeffery S, Gardiner Natalie J, Tanley Simon W, Lewis Malcolm A, Sites Emily, Angle Brad, Alves Cláudia, Lourenço Teresa, Rodrigues Márcia, Calado Angelina, Amado Marta, Guerreiro Nancy, Serras Inês, Beetz Christian, Varga Rita-Eva, Silay Mesrur Selcuk, Darlow John M, Dobson Mark G, Barton David E, Hunziker Manuela, Puri Prem, Feather Sally A, Goodship Judith A, Goodship Timothy H J, Lambert Heather J, Cordell Heather J, Saggar Anand, Kinali Maria, Lorenz Christian, Moeller Kristina, Schaefer Franz, Bayazit Aysun K, Weber Stefanie, Newman William G, Woolf Adrian S

Abstract excerpt

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...

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PMID: 25145936
DOI: 10.1681/ASN.2013090961
PMCID: PMC4378092

Genes

HPSE2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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