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3 results on '"IDUA gene mutation"'

1. Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I

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, and Dung Chi Vu

Subjects
α-L-iduronidase (IDUA) gene, IDUA gene mutation, mucopolysaccharidosis type I, Science
Abstract

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by deleterious mutations in the α-L-iduronidase (IDUA) 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 IDUA 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 IDUA 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.

Published
2021
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2. Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I

Author

Thao Phuong Bui, Khanh Ngoc Nguyen, Dien Minh Tran, Shunji Tomatsu, Ngoc Thi Bich Can, Hoang Huy Nguyen, Dung Chi Vu, Wuh-Liang Hwu, and Tung Van Nguyen

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Science, Population, Biology, α-L-iduronidase (IDUA) gene, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, Article, Mucopolysaccharidosis type I, Allele, Family history, education, skin and connective tissue diseases, Gene, Ecology, Evolution, Behavior and Systematics, Genetics, Newborn screening, education.field_of_study, α‑L‑iduronidase (IDUA) gene, mucopolysaccharidosis type I, IDUA gene mutation, Paleontology, nutritional and metabolic diseases, Space and Planetary Science, Founder effect
Abstract

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by deleterious mutations in the α‑L‑iduronidase (IDUA) 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 IDUA 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 IDUA gene (c.1190‑10C&gt, A (Intronic), c.1046A&gt, G (p.Asp349Gly), c.1862G&gt, C (p.Arg621Pro) were identified. The c.1190‑10C&gt, 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

Published
2021

3. Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I.

Author

Can, Ngoc Thi Bich, Tran, Dien Minh, Bui, Thao Phuong, Nguyen, Khanh Ngoc, Nguyen, Hoang Huy, Nguyen, Tung Van, Hwu, Wuh-Liang, Tomatsu, Shunji, and Vu, Dung Chi

Subjects
*MUCOPOLYSACCHARIDOSIS, *GENETIC variation, *DNA sequencing, *VIETNAMESE people, *NEWBORN screening
Abstract

Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by deleterious mutations in the α-L-iduronidase (IDUA) 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 IDUA 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 IDUA 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. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

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