TY - JOUR
T1 - Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome
AU - Pang, Junfeng
AU - Zhang, Shu
AU - Yang, Ping
AU - Lee, Bobbilynn Hawkins
AU - Zhong, Jixin
AU - Zhang, Yushan
AU - Ochoa, Bernardo
AU - Agundez, Jose A.G.
AU - Voelckel, Marie Antoinette
AU - Gu, Weikuan
AU - Xiong, Wencheng
AU - Mei, Lin
AU - She, Jin-Xiong
AU - Wang, Cong Yi
N1 - Funding Information:
We are grateful to the affected subjects and their family members for participating in this study. We are also grateful to Leszek Ignatowicz for his great suggestion for manuscript preparation and Yan Jiao for her advice in high-throughput mutation screening. This work was supported by grants from the National Institutes of Health (DK074957 to C.-Y.W. and DK53266 to J.-X.S.).
PY - 2010/7/11
Y1 - 2010/7/11
N2 - 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.
AB - 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.
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U2 - 10.1016/j.ajhg.2010.04.016
DO - 10.1016/j.ajhg.2010.04.016
M3 - Article
C2 - 20560209
AN - SCOPUS:77953229417
SN - 0002-9297
VL - 86
SP - 957
EP - 962
JO - American journal of human genetics
JF - American journal of human genetics
IS - 6
ER -