Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by deleterious mutations in the α-L-iduronidase (<i>IDUA</i>) gene. Until now, MPS I in Vietnamese has been poorly addressed. Five MPS I patients were studied with direct DNA sequencing using Illumina tech...

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Autores principales:	Ngoc Thi Bich Can, Dien Minh Tran, Thao Phuong Bui, Khanh Ngoc Nguyen, Hoang Huy Nguyen, Tung Van Nguyen, Wuh-Liang Hwu, Shunji Tomatsu, Dung Chi Vu
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	α-L-iduronidase (IDUA) gene IDUA gene mutation mucopolysaccharidosis type I Science Q
Acceso en línea:	https://doaj.org/article/7fa00b85e7b447a395355e8a1185c733
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spelling	oai:doaj.org-article:7fa00b85e7b447a395355e8a1185c7332021-11-25T18:10:48ZMolecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I10.3390/life111111622075-1729https://doaj.org/article/7fa00b85e7b447a395355e8a1185c7332021-10-01T00:00:00Zhttps://www.mdpi.com/2075-1729/11/11/1162https://doaj.org/toc/2075-1729Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by deleterious mutations in the α-L-iduronidase (<i>IDUA</i>) gene. Until now, MPS I in Vietnamese has been poorly addressed. Five MPS I patients were studied with direct DNA sequencing using Illumina technology confirming pathogenic variants in the <i>IDUA</i> gene. Clinical characteristics, additional laboratory results, and family history were collected. All patients have presented with the classical characteristic of MPS I, and α-L-iduronidase activity was low with the accumulation of glycosaminoglycans. Three variants in the <i>IDUA</i> gene (c.1190-10C>A (Intronic), c.1046A>G (p.Asp349Gly), c.1862G>C (p.Arg621Pro) were identified. The c.1190-10C>A variant represents six of the ten disease alleles, indicating a founder effect for MPS I in the Vietnamese population. Using biochemical and genetic analyses, the precise incidence of MPS I in this population should accelerate early diagnosis, newborn screening, prognosis, and optimal treatment.Ngoc Thi Bich CanDien Minh TranThao Phuong BuiKhanh Ngoc NguyenHoang Huy NguyenTung Van NguyenWuh-Liang HwuShunji TomatsuDung Chi VuMDPI AGarticleα-L-iduronidase (IDUA) geneIDUA gene mutationmucopolysaccharidosis type IScienceQENLife, Vol 11, Iss 1162, p 1162 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	α-L-iduronidase (IDUA) gene IDUA gene mutation mucopolysaccharidosis type I Science Q
spellingShingle	α-L-iduronidase (IDUA) gene IDUA gene mutation mucopolysaccharidosis type I Science Q Ngoc Thi Bich Can Dien Minh Tran Thao Phuong Bui Khanh Ngoc Nguyen Hoang Huy Nguyen Tung Van Nguyen Wuh-Liang Hwu Shunji Tomatsu Dung Chi Vu Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
description	Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by deleterious mutations in the α-L-iduronidase (<i>IDUA</i>) gene. Until now, MPS I in Vietnamese has been poorly addressed. Five MPS I patients were studied with direct DNA sequencing using Illumina technology confirming pathogenic variants in the <i>IDUA</i> gene. Clinical characteristics, additional laboratory results, and family history were collected. All patients have presented with the classical characteristic of MPS I, and α-L-iduronidase activity was low with the accumulation of glycosaminoglycans. Three variants in the <i>IDUA</i> gene (c.1190-10C>A (Intronic), c.1046A>G (p.Asp349Gly), c.1862G>C (p.Arg621Pro) were identified. The c.1190-10C>A variant represents six of the ten disease alleles, indicating a founder effect for MPS I in the Vietnamese population. Using biochemical and genetic analyses, the precise incidence of MPS I in this population should accelerate early diagnosis, newborn screening, prognosis, and optimal treatment.
format	article
author	Ngoc Thi Bich Can Dien Minh Tran Thao Phuong Bui Khanh Ngoc Nguyen Hoang Huy Nguyen Tung Van Nguyen Wuh-Liang Hwu Shunji Tomatsu Dung Chi Vu
author_facet	Ngoc Thi Bich Can Dien Minh Tran Thao Phuong Bui Khanh Ngoc Nguyen Hoang Huy Nguyen Tung Van Nguyen Wuh-Liang Hwu Shunji Tomatsu Dung Chi Vu
author_sort	Ngoc Thi Bich Can
title	Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
title_short	Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
title_full	Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
title_fullStr	Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
title_full_unstemmed	Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I
title_sort	molecular analysis of vietnamese patients with mucopolysaccharidosis type i
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/7fa00b85e7b447a395355e8a1185c733
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Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I

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