EC Number   |
Application |
Reference |
|---|
   3.4.24.B15 | medicine |
a PHEX splice acceptor mutation is found in intron 9 (c.1080-3C>A) in a family with 3 affected individuals with hypophosphatemic rickets. A sporadic case with hypophosphatemic rickets from the Indian subcontinent revealed PHEX mutation (c.1211_1215delACAAAinsTTTACAT, p.Asp404Valfs*5, de novo) located in exon 11. Analysis of all human splice sites adjacent to all 327293 exons across 81814 transcripts among 20345 human genes revealed that cytosine is, with 64.3%, the most frequent nucleobase at the minus 3 splice acceptor position, followed by thymidine with 28.7%, adenine with 6.3%, and guanine with 0.8% |
755092 |
| 3.4.24.B15 | medicine |
alterations in the PHEX expression underlie X-linked hypophosphatemia |
681076 |
| 3.4.24.B15 | medicine |
both male and female hypophosphatemic mice at 9 months of age have a mineral phenotype that is corrected by osteoblast-specific expression of the hPHEX gene. The morphometric phenotype and the serum chemistry, however, are not fully corrected |
691573 |
| 3.4.24.B15 | medicine |
identification of mutations c.983_987dupCTACC, c.1586+2T>G, c.1206delA, c.436+1G>T, c.1217G>T, and g.22,215,887+-22,395,767del (179880 bp deletion including exon 16+-22 and ZNF645) in patients with hypophosphatemia. Patients with de novo PHEX mutations often have delayed diagnosis and significantly shorter in height than those who have inherited PHEX mutations. Compound heterzygous mutations in SLC34A3 are found in one patient and his asymptomatic sister: c.1335+2T>A and c.1639_1652del14 |
755169 |
| 3.4.24.B15 | medicine |
PHEX is the key enzyme in the pathogenesis of X-linked hypophosphatemic rickets. Mutational analysis of the PHEX gene reveals three point mutations and two amino acid changes which may be rare polymorphisms, as well as a small deletion, found as a mosaic in the affected patient. Early diagnosis of possibly affected children by molecular genetic analysis is of great importance because it allows early therapeutic intervention before manifestation of skeletal deformities occurs, thereby improving the clinical outcomes |
691575 |
| 3.4.24.B15 | medicine |
the present genetic study of a large cohort of hypophosphatemic patients (209 patients representing 118 pedigrees) highlights the major role played by mutations in the PHEX gene as the cause of familial hypophosphatemic rickets. PHEX mutations are found in 79% of all proband |
692573 |
| 3.4.24.B15 | medicine |
X-linked hypophosphatemia is a dominant disorder of phosphate homeostasis characterized by growth retardation, rachitic and osteomalacic bone disease, hypophosphatemia, and renal defects in phosphate reabsorption and vitamin D metabolism. The gene responsible for XLH is identified by positional cloning and designated PHEX (formerly PEX) to depict a phosphate regulating gene with homology to endopeptidases on the X chromosome |
692578 |
