Identification of novel mutations in exon 1 of iduronate-2-sulfatase gene from mucopolysaccharidosis type II patient in Indonesia

A. R. Widyaningrum, N. M. Prakoso, R. Priambodo, Y. A. Aswin, C. N. Hafifah, D. R. Sjarif

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

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.

Original languageEnglish
Title of host publication2nd Science and Mathematics International Conference, SMIC 2020
Subtitle of host publicationTransforming Research and Education of Science and Mathematics in the Digital Age
EditorsMeiliasari Meiliasari, Yuli Rahmawati, Mutia Delina, Ella Fitriani
PublisherAmerican Institute of Physics Inc.
ISBN (Electronic)9780735440753
DOIs
Publication statusPublished - 2 Apr 2021
Event2nd Science and Mathematics International Conference: Transforming Research and Education of Science and Mathematics in the Digital Age, SMIC 2020 - Jakarta, Indonesia
Duration: 8 Aug 20209 Aug 2020

Publication series

NameAIP Conference Proceedings
Volume2331
ISSN (Print)0094-243X
ISSN (Electronic)1551-7616

Conference

Conference2nd Science and Mathematics International Conference: Transforming Research and Education of Science and Mathematics in the Digital Age, SMIC 2020
CountryIndonesia
CityJakarta
Period8/08/209/08/20

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