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

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• 作者：Junfeng Pang ; Shu Zhang ; Ping Yang ; Bobbilynn Hawkins-Lee ; Jixin Zhong ; Yushan Zhang ; Bernardo Ochoa ; Jose A.G. Agundez ; Marie-Antoinette Voelckel ; Weikuan Gu ; Wen-Cheng Xiong ; Lin Mei ; Jin-Xiong She
• 刊名：The American Journal of Human Genetics
• 出版年：2010
• 出版时间：11 June 2010
• 年：2010
• 卷：86
• 期：6
• 页码：957-962
• 全文大小：512 K

文摘

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.