title: Clinical and genetic characteristics for the Urofacial Syndrome (UFS).
abstract: The Urofacial (Ochoa) Syndrome (UFS) is a rare autosomal recessive disorder and over 100 patients have been reported thus far. UFS is characterized by the abnormal facial expression and dysfunctional voiding. The patients show a peculiar distortion of the facial expression (grimacing as if in pain or sadness when they tried to smile or laugh) along with urinary tract infection, enuresis, vesicoureteral reflux and hydronephrosis without any underlying neurological lesion and previous urinary obstruction. Some patients are also noted with nocturnal lagophthalmos. Until 2010, HPSE2, the gene encodes Heparanse 2 on chromosome 10, was thought to be the only culprit gene for this syndrome. However, another criminal gene, LRIG2, which encodes leucine-rich repeats and immunoglobulin-like domains 2, was also come into the light in 2012. Studies for dissecting the biological functions of HPSE2 and LRIG2 in urinary abnormalities are ongoing. In this minireview, we will update the discovery of novel clinical manifestations relevant to this syndrome and discuss with focus for the impact of HPSE2 on voiding dysfunction.
authors: The Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, China.
authors: Yaqin
authors: Y
authors: Tu
authors: The Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, China.
authors: Ping
authors: P
authors: Yang
authors: Second Clinical College, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, China.
authors: Jia
authors: J
authors: Yang
authors: First Clinical College, Tongji Medical College, Huazhong University of Science and Technology 1277 Jiefang Ave., Wuhan 430030, China.
authors: Yuchen
authors: Y
authors: Xu
authors: The Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, China.
authors: Fei
authors: F
authors: Xiong
authors: The Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, China.
authors: Qilin
authors: Q
authors: Yu
authors: Department of Orthopedic Surgery and BioMedical Engineering, Campbell-Clinic, University of Tennessee Health Science Center Memphis, Tennessee, United States of America.
authors: Weikuan
authors: W
authors: Gu
authors: Genetics Clinic, Children's Hospitals & Clinics of Minnesota MN 55404, USA.
authors: Dinel
authors: D
authors: Pond
authors: Genetics Clinic, Children's Hospitals & Clinics of Minnesota MN 55404, USA.
authors: Nancy
authors: N
authors: Mendelsohn
authors: VU University Medical Center Amsterdam, Netherlands.
authors: Guus A M A
authors: GA
authors: Lachmeijer
authors: The Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, China.
authors: Shu
authors: S
authors: Zhang
authors: The Center for Biomedical Research, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology 1095 Jiefang Ave., Wuhan 430030, China.
authors: Cong-Yi
authors: CY
authors: Wang
mesh_terms: D000818:Animals; D005149:Facial Expression; D019066:Facies; D020022:Genetic Predisposition to Disease; D005966:Glucuronidase / Q000235:genetics*; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D012307:Risk Factors; D001743:Urinary Bladder / Q000503:physiopathology; D014555:Urination Disorders / Q000235:genetics / Q000503:physiopathology; D014570:Urologic Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D000099175:Heparanase
chemical_list: D005966:Glucuronidase; D008562:Membrane Glycoproteins; D000099175:Heparanase; C488673:LRIG2 protein, human
keywords: HPSE2; LRIG2; Urofacial Syndrome; dysfunctional voiding; facial expression