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Publication : Urinary tract effects of HPSE2 mutations.

First Author	Stuart HM	Year	2015
Journal	J Am Soc Nephrol	Volume	26
Issue	4	Pages	797-804
PubMed ID	25145936	Mgi Jnum	J:251751
Mgi Id	MGI:6100394	Doi	10.1681/ASN.2013090961
Citation	Stuart HM, et al. (2015) Urinary tract effects of HPSE2 mutations. J Am Soc Nephrol 26(4):797-804

abstractText

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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