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Tytuł:
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Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
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Autorzy:
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Aminzadeh M; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Department of Pediatrics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Malekpour N; Department of Genetics, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
Ghandil P; Diabetes Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran. Electronic address: .
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Źródło:
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Gene [Gene] 2019 Jul 20; Vol. 706, pp. 1-5. Date of Electronic Publication: 2019 Apr 19.
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Typ publikacji:
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Journal Article
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Język:
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English
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Imprint Name(s):
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Original Publication: Amsterdam, Elsevier/North-Holland, 1976-
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MeSH Terms:
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Mucopolysaccharidosis VI/*genetics
N-Acetylgalactosamine-4-Sulfatase/*genetics
Adult ; Consanguinity ; DNA/genetics ; DNA Mutational Analysis/methods ; Exons ; Female ; Humans ; Iran ; Male ; Mucopolysaccharidosis VI/enzymology ; Mucopolysaccharidosis VI/metabolism ; Mutation/genetics ; N-Acetylgalactosamine-4-Sulfatase/metabolism ; N-Acetylgalactosamine-4-Sulfatase/physiology ; Phenotype ; Sequence Analysis, DNA/methods
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Contributed Indexing:
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Keywords: Arylsulfatase B gene; Iranian patient; Lysosomal storage disorder; Maroteaux-Lamy syndrome; Mucopolysaccharidosis VI; Mutation
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Substance Nomenclature:
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9007-49-2 (DNA)
EC 3.1.6.12 (N-Acetylgalactosamine-4-Sulfatase)
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Entry Date(s):
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Date Created: 20190423 Date Completed: 20190617 Latest Revision: 20190617
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Update Code:
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20240105
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DOI:
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10.1016/j.gene.2019.04.050
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PMID:
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31009684
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Background: Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (ARSB) enzyme. Our objectives were to investigate clinical phenotypes and performed molecular studies in Iranian patients with MPS VI, for the first time, in the southwestern Iran.
Methods: We studied 14 cases from 10 unrelated kindreds with MPS VI that were enrolled during 8 years. The mutational analysis of coding and flanking regions of ARSB gene was performed for the patients and their families using genomic DNA from whole blood by direct sequencing.
Results: All cases had parental consanguinity. Except one who had Fars ethnicity and presented with a very mild degree of coarse face, but normal otherwise, even near normal height, all were from Arab ethnicity with characteristic phenotypes including severe facial changes, cardiac involvement and dysostosis multiplex. Sequencing analysis of ARSB gene revealed four pathogenic homozygote mutations, including a novel nonsense mutation c.281C>A (p.Ser94X) in 9 patients, as well as, a known nonsense mutation c.753C>G (p.Try251X) in 3 cases, and two missense mutations c.904G>A (p.Gly302Arg) and c.454C>T (p.Arg152Trp) in two cases. The type of mutations affected the severity patient's phenotypes.
Conclusions: These findings increased the genetic databases of Iranian patients with MPS VI and would be so much helpful for the high-risk families to speed the detection of carriers with accuracy and perform the prenatal test of disorder with cost-effective in this population.
(Copyright © 2019. Published by Elsevier B.V.)
