Previously, we localized the defective gene for the urofacial syndrome (UFS) to a region on chromosome 10q24 by homozygosity flapping. 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 UPS patients suggests that HPSE2 may be important for the synergic action of muscles implicated in facial expression and urine voiding.
第一作者单位：[1]Med Coll Georgia, Ctr Biotechnol & Genom Med, Augusta, GA 30912 USA
通讯作者：
通讯机构：[1]Med Coll Georgia, Ctr Biotechnol & Genom Med, Augusta, GA 30912 USA[*1]Med Coll Georgia, Ctr Biotechnol & Genom Med, 1120 15th St,CA4098, Augusta, GA 30912 USA
推荐引用方式(GB/T 7714)：
Pang Junfeng,Zhang Shu,Yang Ping,et al.Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome[J].AMERICAN JOURNAL OF HUMAN GENETICS.2010,86(6):957-962.doi:10.1016/j.ajhg.2010.04.016.
APA：
Pang, Junfeng,Zhang, Shu,Yang, Ping,Hawkins-Lee, Bobbilynn,Zhong, Jixin...&Wang, Cong-Yi.(2010).Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome.AMERICAN JOURNAL OF HUMAN GENETICS,86,(6)
MLA：
Pang, Junfeng,et al."Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome".AMERICAN JOURNAL OF HUMAN GENETICS 86..6(2010):957-962
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