@inproceedings{093f28eace064fd2a68ef25abad0ae45,
title = "Identification of novel mutations in exon 1 of iduronate-2-sulfatase gene from mucopolysaccharidosis type II patient in Indonesia",
abstract = "Mucopolysaccharidosis type II (MPS II, OMIM 309900) is an X-linked recessive lysosomal storage disorder caused by the accumulation of heparan sulfate and dermatan sulfate due to iduronate-2-sulfatase (IDS) enzyme deficiency. To detect IDS gene mutation, DNA samples are obtained from 10 MPS II patients and 50 normal individuals, then the exon 1 of IDS gene was analyzed with Sanger sequencing. Two novel mutations are found from one male patient at the site of c.22C>A (p.Arg8=) and c.54C>A (p.Ser18Arg). Both mutations are not located in the bases which are responsible as the signal peptide cleavage site. Amino acid substitution c.54C>A (p.Ser18Arg) does not change the hydrophobic characteristic as both amino acids are hydrophobic. Therefore, those mutations do not change IDS enzyme structure nor alter the signaling pathway of IDS mRNA-ribosome complex to the endoplasmic reticulum. This study of exon 1 is the first to be performed in Indonesia. The novel mutations found in this study can contribute to a single nucleotide polymorphism (SNP) database of MPS II patients from all over the world, thus it leads to a deeper understanding of this rare disease at the molecular level. Therefore, a genotype study is needed to get a full profile of MPS II patients in Indonesia.",
author = "Widyaningrum, {A. R.} and Prakoso, {N. M.} and R. Priambodo and Aswin, {Y. A.} and Hafifah, {C. N.} and Sjarif, {D. R.}",
note = "Funding Information: This research is funded by PITTA grant from Direktorat Riset dan Pengembangan Masyarakat (DRPM), Universitas Indonesia. We thanked The Human Genetic Research Center IMERI FK UI, The Department of Pediatric, and The Department of Medical Biology, Universitas Indonesia for providing support and their cooperation during the research. We also thanked Dr. Anom Bowolaksono as an academic counselor from the Department of Biology, Faculty of Mathematics and Natural Science to be involved in this research. Publisher Copyright: {\textcopyright} 2021 Author(s).; 2nd Science and Mathematics International Conference: Transforming Research and Education of Science and Mathematics in the Digital Age, SMIC 2020 ; Conference date: 08-08-2020 Through 09-08-2020",
year = "2021",
month = apr,
day = "2",
doi = "10.1063/5.0042045",
language = "English",
series = "AIP Conference Proceedings",
publisher = "American Institute of Physics Inc.",
editor = "Meiliasari Meiliasari and Yuli Rahmawati and Mutia Delina and Ella Fitriani",
booktitle = "2nd Science and Mathematics International Conference, SMIC 2020",
address = "United States",
}