Loading...
Please wait, while we are loading the content...
Similar Documents
A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I
| Content Provider | Semantic Scholar |
|---|---|
| Author | Prommajan, Korrakot Ausavarat, Surasawadee Srichomthong, Chalurmpon Puangsricharern, Vilavun Suphapeetiporn, Kanya Shotelersuk, Vorasuk |
| Copyright Year | 2011 |
| Abstract | PURPOSE To characterize the pathogenic mutations causing mucopolysaccharidosis type I (MPS I) in two Thai patients: one with Hurler syndrome (MPS IH), the most severe form, and the other with Scheie syndrome (MPS IS), the mildest. Both presented with distinctive phenotype including corneal clouding. METHODS The entire coding regions of the α-L-iduronidase (IDUA) gene were amplified by PCR and sequenced. Functional characterization of the mutant IDUA was determined by transient transfection of the construct into COS-7 cells. RESULTS Mutation analyses revealed that the MPS IH patient was homozygous for a previously reported mutation, c.252insC, while the MPS IS patient was found to harbor a novel c.826G>A (p.E276K) mutation. The novel p.E276K mutation was not detected in 100 unaffected ethnic-matched control chromosomes. In addition, the glutamic acid residue at codon 276 was located at a well conserved residue. Transient transfection of the p.E276K construct revealed a significant reduction of IDUA activity compared to that of the wild-type IDUA suggesting it as a disease-causing mutation. CONCLUSIONS This study reports a novel mutation, expanding the mutational spectrum for MPS I. |
| Starting Page | 456 |
| Ending Page | 460 |
| Page Count | 5 |
| File Format | PDF HTM / HTML |
| PubMed reference number | 21364962 |
| Journal | Medline |
| Volume Number | 17 |
| Alternate Webpage(s) | http://www.molvis.org/molvis/v17/a52/mv-v17-a52-prommajan.pdf |
| Journal | Molecular vision |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
