Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

doi:10.1016/j.ajhg.2010.04.016

Article

Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

American journal of human genetics - 11 Jun 2010

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

Abstract excerpt

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...

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Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.

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