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 …