Variant identification of exon 11 of galactosamine (N-acetyl)-6-sulfatase (GALNS) gene in mucopolysaccharidosis type IVA patients in Indonesia

R. A.R. Sulaiman, R. P. Aji, 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 IVA (MPS IVA) is an autosomal recessive disease, in which lysosomes are unable to catalyze glycosaminoglycans due to deficiency of the enzyme galactosamine (N-acetyl)-6-sulfatase (GALNS), encoded by GALNS gene. The exon 11 of GALNS gene is known as one of the mutation hotspot regions and encode the enzyme scaffolding structure along with exon 8-10 and 12-14. The GALNS enzyme deficiency leads to abnormal accumulation of glycosaminoglycans inside the lysosomes, rendering the cell unable to function properly. Symptoms of MPS IVA are commonly seen as skeletal dysplasia and multi-organ complications. Research on MPS IVA has been done in many countries, but not in Indonesia. This study aims to identify variants that may be present in exon 11 of GALNS gene in MPS IVA patients in Indonesia. The study was conducted using DNA from blood samples of 7 MPS IVA patients and 30 healthy individuals as controls, obtained from Cipto Mangunkusumo Hospital, Jakarta. A set of specific primers of exon 11 was designed and optimized before completing DNA extraction. Then, DNA extraction was performed, further amplified using the polymerase chain reaction technique. PCR products were visualized by electrophoresis and proceeded for Sanger sequencing. The sequencing results indicated that a variant c.1177G>T (p.Ala393Ser) was found in one patient and five healthy individuals. This variant has been reported in Japan before and identified as benign with more than 5% MAF globally. This research may provide additional information to existing databases for research in MPS IVA, especially 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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