TY - JOUR
T1 - Identification of a deletion variant in exon 9 of iduronate-2-sulfatase gene in patients with type II mucopolysaccharidosis
AU - Priambodo, Rizky
AU - Ariani, Yulia
AU - Sjarif, Damayanti
N1 - Funding Information:
This article was presented at The 3rd International Conference and Exhibition on Indonesian Medical Education and Research Institute (ICE on IMERI 2018), Faculty of Medicine, Universitas Indonesia, Jakarta, Indonesia. This research was supported Direktorat Riset dan Pengabdian Masyarakat (DRPM) UI and Ministry of Research, Technology, and Higher Education of the Republic of Indonesia. We thank staff at the Human Genetic Research Center, Indonesian Medical Education and Research Institute, Universitas Indonesia, for all their support and cooperation.
Publisher Copyright:
© 2020 Journal of Natural Science, Biology and Medicine Published by Wolters Kluwer - Medknow.
PY - 2019/11
Y1 - 2019/11
N2 - 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.
AB - 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.
KW - Exon 9
KW - iduronate sulfatase
KW - Indonesia
KW - mucopolysaccharidosis II
UR - http://www.scopus.com/inward/record.url?scp=85078144124&partnerID=8YFLogxK
U2 - 10.4103/jnsbm.JNSBM_77_19
DO - 10.4103/jnsbm.JNSBM_77_19
M3 - Article
AN - SCOPUS:85078144124
VL - 10
SP - S38-S42
JO - Journal of Natural Science, Biology and Medicine
JF - Journal of Natural Science, Biology and Medicine
SN - 0976-9668
IS - 3
ER -