Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

Junfeng Pang, Shu Zhang, Ping Yang, Bobbilynn Hawkins Lee, Jixin Zhong, Yushan Zhang, Bernardo Ochoa, Jose A.G. Agundez, Marie Antoinette Voelckel, Weikuan Gu, Wencheng Xiong, Lin Mei, Jin-Xiong She, Cong Yi Wang

Research output: Contribution to journalArticlepeer-review

61 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)957-962
Number of pages6
JournalAmerican journal of human genetics
Issue number6
StatePublished - Jul 11 2010

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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