Disease relevance of UFS

• Urofacial syndrome associated with hydrocephalus due to aqueductal stenosis [1].
• INTRODUCTION: The urofacial or Ochoa syndrome is a rare disease characterized by the presence of functional obstructive uropathy associated with peculiar facial features when patients attempt to smile or laugh [2].
• Early diagnosis of the urofacial syndrome is essential to prevent irreversible renal failure [2].

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].

References