Loss-of-function mutations in HPSE2 cause the autosomal recessive urofacial syndrome.
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.
Pang
Junfeng
J
The Center for Biotechnology and Genomic Medicine, Medical College of Georgia, 1120 15th Street, CA4098, Augusta, GA 30912, USA.
Zhang
Shu
S
Yang
Ping
P
Hawkins-Lee
Bobbilynn
B
Zhong
Jixin
J
Zhang
Yushan
Y
Ochoa
Bernardo
B
Agundez
Jose A G
JA
Voelckel
Marie-Antoinette
MA
Fisher
Richard B
RB
Gu
Weikuan
W
Xiong
Wen-Cheng
WC
Mei
Lin
L
She
Jin-Xiong
JX
Wang
Cong-Yi
CY
D002874:Chromosome Mapping; D019066:Facies; D005260:Female; D005808:Genes, Recessive; D005966:Glucuronidase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D013577:Syndrome; D014570:Urologic Diseases / Q000235:genetics*; D000099175:Heparanase
D005966:Glucuronidase; D000099175:Heparanase