Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-Vi Patients With Different Phenotype Severity

Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-Vi Patients With Different Phenotype Severity Publisher Pubmed

Nouri N¹ ; Nouri N¹ ; Aryani O³ ; Kamalidehghan B⁴ ; Houshmand M⁵

Show Affiliations

1. Molecular Genetic Laboratory, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
2. General Tohid Genetic Counseling Center, Isfahan, Iran
3. Dept. of Genetic, Special Medical Center, Tehran, Iran
4. Dept. of Pharmacy, Faculty of Medicine, University of Malaya, Kuala Lumpur 50603, Malaysia
5. Dept. of Genetic, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran

Source: Iranian Biomedical Journal Published:2012

Abstract

Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Methods: After PCR and direct DNA sequencing, DNA extraction was performed. Results: Sequencing analysis revealed a novel homozygous missense mutation in the ARSB gene at c.1457A>G [p. D486V] in three unrelated Iranian MPS-VI patients with different phenotype severity. Conclusion: The mutation type in three patients was the same; probably, because of a foundation effect on their population.

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4. Novel In-Frame Duplication Variant Characterization in Late Infantile Metachromatic Leukodystrophy Using Whole-Exome Sequencing and Molecular Dynamics Simulation, PLoS ONE (2023)

5. A Novel Pathogenic Variant in Naglu (N-Acetyl-Alpha-Glucosaminidase) Gene Identified by Targeted Next-Generation Sequencing Followed by in Silico Analysis, Iranian Journal of Child Neurology (2019)

6. Investigating of Variations in Brca1 Gene in Iranian Families With Breast Cancer, Medical Journal of the Islamic Republic of Iran (2018)

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Mahin Hashemipour (2)

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Style	Citing Format
MLA	Nouri N, et al.. "Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-Vi Patients With Different Phenotype Severity." Iranian Biomedical Journal, vol. 16, no. 3, 2012, pp. 1-3.
APA	Nouri N, Nouri N, Aryani O, Kamalidehghan B, Houshmand M (2012). Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-Vi Patients With Different Phenotype Severity. Iranian Biomedical Journal, 16(3), 1-3.
Chicago	Nouri N, Nouri N, Aryani O, Kamalidehghan B, Houshmand M. "Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-Vi Patients With Different Phenotype Severity." Iranian Biomedical Journal 16, no. 3 (2012): 1-3.
Harvard	Nouri N et al. (2012) 'Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-Vi Patients With Different Phenotype Severity', Iranian Biomedical Journal, 16(3), pp. 1-3.
Vancouver	Nouri N, Nouri N, Aryani O, Kamalidehghan B, Houshmand M. Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-Vi Patients With Different Phenotype Severity. Iranian Biomedical Journal. 2012;16(3):1-3.
BibTex	@article{ author = {Nouri N and Nouri N and Aryani O and Kamalidehghan B and Houshmand M}, title = {Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-Vi Patients With Different Phenotype Severity}, journal = {Iranian Biomedical Journal}, volume = {16}, number = {3}, pages = {1-3}, year = {2012} }
RIS	TY - JOUR AU - Nouri N AU - Nouri N AU - Aryani O AU - Kamalidehghan B AU - Houshmand M TI - Identification of a Novel Arylsulfatase B Gene Mutation in Three Unrelated Iranian Mucopolysaccharidosis Type-Vi Patients With Different Phenotype Severity JO - Iranian Biomedical Journal VL - 16 IS - 3 SP - 1 EP - 3 PY - 2012 ER -

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