Mutational Analysis of Mucopolysaccharidosis in Iranian Patients
| Author | Seyed Hoseinali Saberi | en |
| Author | Shahla Farshidi | en |
| Author | Behnam Kamalidehghan | en |
| Author | Roshanak Jazayeri | en |
| Author | Massoud Houshmand | en |
| Orcid | Roshanak Jazayeri [0000-0002-3230-4610] | en |
| Issued Date | 2021-07-31 | en |
| Abstract | Mucopolysaccharidosis (MPS) is a rare and heterogeneous metabolic disorder with wide phenotypic distributions throughout the world. This study aimed to determine the genetic polymorphisms, contributing to the most common types of MPS in 19 unrelated Iranian patients. The sequence of the coding region and exon‐intron boundaries of the MPS genes were analyzed by Sanger sequencing method. We used the biochemical and clinical characteristics of MPS subjects for genetic analysis. A novel IDUA variant (c.99T>C, p.H33H), a novel nonsense change (c.514C>T, p.R172*) in exon 5 of IDS gene, c.74G > A (p. p.R24H) in SGSH gene, and three variants including (c.607C>T (p.R203*), c.259G>C (p.A87P), and c.683G>A (p.R228Q)) in NAGLU (n-acetyl-alpha-glucosaminidase) were predicted as novel pathogenic mutations. In conclusion, this study broadened genotypic spectrum of Iranian MPS patients, facilitating the definition of disease-associated mutations, which help to provide a more effective approach in MPS carrier detection. | en |
| DOI | https://doi.org/10.5812/zjrms.104794 | en |
| Keyword | Mucopolysaccharidosis | en |
| Keyword | Mutation Screening | en |
| Keyword | Iran | en |
| Keyword | Genetic Counseling | en |
| Keyword | Sanger Sequencing | en |
| Publisher | Brieflands | en |
| Title | Mutational Analysis of Mucopolysaccharidosis in Iranian Patients | en |
| Type | Research Article | en |
Files
Original bundle
1 - 1 of 1
Loading...
- Name:
- zjrms-23-3-104794.pdf
- Size:
- 122.63 KB
- Format:
- Adobe Portable Document Format
- Description:
- Article/s PDF