ORIGINAL ARTICLE
Year : 2019  |  Volume : 10  |  Issue : 3  |  Page : 38-42

Identification of a deletion variant in exon 9 of iduronate-2-sulfatase gene in patients with type II mucopolysaccharidosis


1 Human Genetic Research Center, Indonesian Medical Education and Research Institute, Universitas Indonesia, Jakarta, Indonesia
2 Human Genetic Research Center, Indonesian Medical Education and Research Institute; Department of Pediatric, Faculty of Medicine, Dr. Cipto Mangunkusumo National Hospital; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia
3 Human Genetic Research Center, Indonesian Medical Education and Research Institute; Department of Medical Biology, Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia

Correspondence Address:
Damayanti Rusli Sjarif
Komplek Depnaker RT.008/002, Jl. Empang Tiga Dalam No. 13, Pejaten Timur, Jakarta Selatan, 12510, Jakarta
Indonesia
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/jnsbm.JNSBM_77_19

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Objective: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is a lysosomal storage disorder caused by mutation of the iduronate-2-sulfatase (IDS) gene, which is located on chromosome X. The profile of IDS gene at exon 9 has not been previously studied in Indonesian patients. The objective of this study was to detect and analyze mutations in exon 9 of the IDS gene in MPS II patients from Indonesia. Subjects and Methods: DNA from 10 MPS II patients from Indonesia was analyzed along with 50 healthy individuals, both male and female, which formed the control group. DNA isolation, polymerase chain reaction amplification, electrophoresis, and sequencing were performed for the analysis. Results: The IDS gene was successfully analyzed for all samples. A DNA base deletion at position c.1549delATC was found in an MPS II patient. Conclusions: This IDS gene variant is novel. Further research would be necessary to detect other IDS gene variants, with mutations at other exons, in the Indonesian MPS II patients.


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