title: Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
abstract: Previously, we localized the defective gene for the urofacial syndrome (UFS) to a region on chromosome 10q24 by homozygosity mapping. We now report evidence that Heparanse 2 (HPSE2) is the culprit gene for the syndrome. Mutations with a loss of function in the Heparanase 2 (HPSE2) gene were identified in all UFS patients originating from Colombia, the United States, and France. HPSE2 encodes a 592 aa protein that contains a domain showing sequence homology to the glycosyl hydrolase motif in the heparanase (HPSE) gene, but its exact biological function has not yet been characterized. Complete loss of HPSE2 function in UFS patients suggests that HPSE2 may be important for the synergic action of muscles implicated in facial expression and urine voiding.
authors.affiliation: The Center for Biotechnology and Genomic Medicine, Medical College of Georgia, 1120 15th Street, CA4098, Augusta, GA 30912, USA.
authors.forename: Junfeng
authors.initials: J
authors.lastname: Pang
authors.forename: Shu
authors.initials: S
authors.lastname: Zhang
authors.forename: Ping
authors.initials: P
authors.lastname: Yang
authors.forename: Bobbilynn
authors.initials: B
authors.lastname: Hawkins-Lee
authors.forename: Jixin
authors.initials: J
authors.lastname: Zhong
authors.forename: Yushan
authors.initials: Y
authors.lastname: Zhang
authors.forename: Bernardo
authors.initials: B
authors.lastname: Ochoa
authors.forename: Jose A G
authors.initials: JA
authors.lastname: Agundez
authors.forename: Marie-Antoinette
authors.initials: MA
authors.lastname: Voelckel
authors.forename: Richard B
authors.initials: RB
authors.lastname: Fisher
authors.forename: Weikuan
authors.initials: W
authors.lastname: Gu
authors.forename: Wen-Cheng
authors.initials: WC
authors.lastname: Xiong
authors.forename: Lin
authors.initials: L
authors.lastname: Mei
authors.forename: Jin-Xiong
authors.initials: JX
authors.lastname: She
authors.forename: Cong-Yi
authors.initials: CY
authors.lastname: Wang
mesh_terms: D002874:Chromosome Mapping; D019066:Facies; D005260:Female; D005808:Genes, Recessive; D005966:Glucuronidase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013577:Syndrome; D014570:Urologic Diseases / Q000235:genetics*; D000099175:Heparanase
chemical_list: D005966:Glucuronidase; D000099175:Heparanase