New Genetic Analysis in Cases with Hunter Syndrome in Whom <i>IDS</i> Gene Mutations Could Not Be Detected: RNA Sequencing
| Author | Abdurrahman Akgun | en |
| Author | Bora Ergin | en |
| Author | Huseyin Bilgin | en |
| Author | Serdar Ceylaner | en |
| Orcid | Abdurrahman Akgun [0000-0002-2917-2469] | en |
| Orcid | Huseyin Bilgin [0000-0002-5946-7356] | en |
| Accessioned Date | 2023-12-24T13:52:24Z | |
| Available Date | 2023-12-24T13:52:24Z | |
| Issued Date | 2023-10-31 | en |
| Abstract | Introduction: Mucopolysaccharidosis-II (MPSII) is diagnosed based on a deficiency in iduronate 2-sulfatase enzyme activity. Detection of a hemizygous pathogenic variant in the iduronate 2-sulfatase (IDS) gene confirms the diagnosis in a male proband. Case Presentation: We report a five-year-old boy with MPSII in whom no mutation was detected in the IDS gene by next-generation sequencing (Miseq-Illumina) covering the coding regions of the gene. Therefore, we tried to detect the mutation in the IDS gene using RNA sequencing that has recently been used. Conclusions: In some diseases diagnosed by clinical and biochemical methods, mutations cannot be detected even with advanced genetic methods, such as next-generation sequencing. In these cases, we emphasize that mutations should be investigated using other methods, including RNA sequencing. | en |
| DOI | https://doi.org/10.5812/ijp-138217 | en |
| URI | https://repository.brieflands.com/handle/123456789/34040 | |
| Keyword | Hunter Syndrome | en |
| Keyword | Next-Generation Sequencing | en |
| Keyword | RNA Sequencing | en |
| Publisher | Brieflands | en |
| Title | New Genetic Analysis in Cases with Hunter Syndrome in Whom <i>IDS</i> Gene Mutations Could Not Be Detected: RNA Sequencing | en |
| Type | Case Report | en |