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A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I.
| Content Provider | Europe PMC |
|---|---|
| Author | Prommajan, Korrakot Ausavarat, Surasawadee Srichomthong, Chalurmpon Puangsricharern, Vilavun Suphapeetiporn, Kanya Shotelersuk, Vorasuk |
| Copyright Year | 2011 |
| Abstract | PurposeTo 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.MethodsThe 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.ResultsMutation 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.ConclusionsThis study reports a novel mutation, expanding the mutational spectrum for MPS I. |
| Journal | Molecular Vision |
| Volume Number | 17 |
| PubMed Central reference number | PMC3042362 |
| PubMed reference number | 21364962 |
| e-ISSN | 10900535 |
| Language | English |
| Publisher | Molecular Vision |
| Publisher Date | 2011-02-11 |
| Access Restriction | Open |
| Rights License | This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Copyright © 2011 Molecular Vision. |
| Content Type | Text |
| Resource Type | Article |
| Subject | Ophthalmology |
