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Gene Review

UFS  -  urofacial syndrome

Homo sapiens

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Disease relevance of UFS


High impact information on UFS

  • These recombinational events place the UFS gene near D10S1726/D10S198 and within a 1-cM interval defined by D10S1433 and D10S603 on chromosome 10q23-q24 [3].
  • Ten additional markers flanking D10S677 and covering a 22-cM region then were analyzed to fine-map the UFS gene by use of haplotype (linkage disequilibrium) analysis [3].
  • To map the UFS gene, a genome screen using a combination of homozygosity-mapping and DNA-pooling strategies was performed in 20 selected patients, one patient pool, and three control pools (unaffected relatives) [3].
  • Shotgun sequencing of the two BAC clones and BLASTN search of the EST databases revealed 3 other ESTs contained in the UFS critical region [4].
  • Four of the 11 ESTs mapped to the 360-kb UFS critical region [4].

Biological context of UFS

  • Haplotype analysis using the new markers mapped the UFS gene within one YAC clone of 1,410 kb [5].
  • A total of 26 polymorphic microsatellite markers were genotyped for 31 UFS patients from Colombia and 2 patients from the United States. Haplotype analyses suggest that the UFS gene is located within two overlapping BAC clones, a region of <360 kb of DNA sequence [4].
  • Extensive search for mutations in the coding region, the 5' and 3' untranslated regions, the promoter region, and the exon/intron junctions failed to identify a pathogenic mutation in UFS patients [6].
  • A multifactorial inheritance model fits with the reported patients, with the relationship to diabetes, and with the similarity of FH/UFS to caudal regression, another condition related to maternal diabetes [7].
  • In one of them unilateral PFFD was associated with lateral foot defects, in the absence of fibular abnormalities, and with a phenotype similar to that observed in the femoral hypoplasia/unusual face syndrome (FH/UFS) [8].

Anatomical context of UFS

  • Both saturated (SFA) and unsaturated fatty acids (UFS) inhibited PHA- and PPD-induced lymphocyte transformation [9].
  • All patients were thoroughly evaluated, including screening for spinal cord anomalies, and were subsequently diagnosed with urofacial syndrome [2].

Other interactions of UFS

  • However, mutation analysis excluded GOT1 as a candidate for the UFS gene [5].

Analytical, diagnostic and therapeutic context of UFS

  • The urofacial (Ochoa) syndrome (UFS) is a rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities [5].
  • Nine patients with bilateral femoral hypoplasia have been investigated in an attempt to elucidate the syndromic identity and pathogenesis of the femoral hypoplasia-unusual facies syndrome (FH-UFS) [10].
  • In this condition, sodium transport is mainly due to convection, allowing the estimate of ultrafiltration of small pores and then of free water transport (total UF - UFSP) [11].


  1. Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis. Teebi, A.S., Hassoon, M.M. Am. J. Med. Genet. (1991) [Pubmed]
  2. Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure. Nicanor, F.A., Cook, A., Pippi-Salle, J.L. International braz j urol : official journal of the Brazilian Society of Urology. (2005) [Pubmed]
  3. Homozygosity and linkage-disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24. Wang, C.Y., Hawkins-Lee, B., Ochoa, B., Walker, R.D., She, J.X. Am. J. Hum. Genet. (1997) [Pubmed]
  4. Construction of a physical and transcript map for a 1-Mb genomic region containing the urofacial (Ochoa) syndrome gene on 10q23-q24 and localization of the disease gene within two overlapping BAC clones (<360 kb). Wang, C.Y., Shi, J.D., Huang, Y.Q., Cruz, P.E., Ochoa, B., Hawkins-Lee, B., Davoodi-Semiromi, A., She, J.X. Genomics (1999) [Pubmed]
  5. Genetic homogeneity, high-resolution mapping, and mutation analysis of the urofacial (Ochoa) syndrome and exclusion of the glutamate oxaloacetate transaminase gene (GOT1) in the critical region as the disease gene. Wang, C.Y., Huang, Y.Q., Shi, J.D., Marron, M.P., Ruan, Q.G., Hawkins-Lee, B., Ochoa, B., She, J.X. Am. J. Med. Genet. (1999) [Pubmed]
  6. High resolution mapping and mutation analyses of candidate genes in the urofacial syndrome (UFS) critical region. Wang, C.Y., Davoodi-Semiromi, A., Shi, J.D., Yang, P., Huang, Y.Q., Agundez, J.A., Moran, J.M., Ochoa, B., Hawkins-Lee, B., She, J.X. Am. J. Med. Genet. A (2003) [Pubmed]
  7. Femoral hypoplasia-unusual facies syndrome in infants of diabetic mothers. Johnson, J.P., Carey, J.C., Gooch, W.M., Petersen, J., Beattie, J.F. J. Pediatr. (1983) [Pubmed]
  8. Proximal femoral focal deficiency (PFFD) and fibular A/hypoplasia (FA/H): a model of a developmental field defect. Sorge, G., Ardito, S., Genuardi, M., Pavone, V., Rizzo, R., Conti, G., Neri, G., Katz, B.E., Opitz, J.M. Am. J. Med. Genet. (1995) [Pubmed]
  9. Specific inhibitory action of polyunsaturated fatty acids on lymphocyte transformation induced by PHA and PPD. Mertin, J., Hughes, D. Int. Arch. Allergy Appl. Immunol. (1975) [Pubmed]
  10. The femoral hypoplasia-unusual facies syndrome: a genetic entity? Lord, J., Beighton, P. Clin. Genet. (1981) [Pubmed]
  11. Mini-peritoneal equilibration test: A simple and fast method to assess free water and small solute transport across the peritoneal membrane. La Milia, V., Di Filippo, S., Crepaldi, M., Del Vecchio, L., Dell'Oro, C., Andrulli, S., Locatelli, F. Kidney Int. (2005) [Pubmed]
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