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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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