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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F14%3A10291104%21RIV15-MSM-11110___
rdf:type
skos:Concept n19:Vysledek
rdfs:seeAlso
http://dx.doi.org/10.1007/s10067-013-2423-z
dcterms:description
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI, OMIM 253200) is caused by mutations in the gene coding for N-acetylgalactosamine-4-sulfatase (4-sulfatase, arylsulfatase B, ARSB, EC 3.1.6.12), a lysosomal enzyme involved in the degradation of dermatan sulfate (DS). The clinical presentation of MPS VI varies greatly with respect to age of onset and rate of disease progression. This report focuses on the attenuated form of MPS VI, which can go unrecognized for years and often presents with atypical signs or symptoms. We described a cohort of MPS VI patients (n = 4) heterozygous for the p.Y210C mutation who had a significant osteoarticular involvement at the onset of their disease and who were diagnosed years or even decades later. We have also reviewed the literature (n = 36). Two types of attenuated MPS VI phenotypes could be distinguished: osteoarticular and cardiac. The majority of MPS VI patients reported so far as relatively attenuated presented with an essentially osteoarticular phenotype associated with the p.Y210C mutation. Patients homozygous for the p.R152W mutation presented with a cardiac phenotype, which, despite fulfilling the generally used criteria for attenuated phenotype, may lead to fast disease progression and abrupt death. The knowledge of natural history and genotype-phenotype correlation may help in developing a tailored therapy potentially using enzyme replacement therapy with substrate reduction therapy or chaperones. Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI, OMIM 253200) is caused by mutations in the gene coding for N-acetylgalactosamine-4-sulfatase (4-sulfatase, arylsulfatase B, ARSB, EC 3.1.6.12), a lysosomal enzyme involved in the degradation of dermatan sulfate (DS). The clinical presentation of MPS VI varies greatly with respect to age of onset and rate of disease progression. This report focuses on the attenuated form of MPS VI, which can go unrecognized for years and often presents with atypical signs or symptoms. We described a cohort of MPS VI patients (n = 4) heterozygous for the p.Y210C mutation who had a significant osteoarticular involvement at the onset of their disease and who were diagnosed years or even decades later. We have also reviewed the literature (n = 36). Two types of attenuated MPS VI phenotypes could be distinguished: osteoarticular and cardiac. The majority of MPS VI patients reported so far as relatively attenuated presented with an essentially osteoarticular phenotype associated with the p.Y210C mutation. Patients homozygous for the p.R152W mutation presented with a cardiac phenotype, which, despite fulfilling the generally used criteria for attenuated phenotype, may lead to fast disease progression and abrupt death. The knowledge of natural history and genotype-phenotype correlation may help in developing a tailored therapy potentially using enzyme replacement therapy with substrate reduction therapy or chaperones.
dcterms:title
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature
skos:prefLabel
Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature
skos:notation
RIV/00216208:11110/14:10291104!RIV15-MSM-11110___
n3:aktivita
n17:V
n3:aktivity
V
n3:cisloPeriodika
5
n3:dodaniDat
n15:2015
n3:domaciTvurceVysledku
n12:9853618
n3:druhVysledku
n11:J
n3:duvernostUdaju
n13:S
n3:entitaPredkladatele
n16:predkladatel
n3:idSjednocenehoVysledku
4477
n3:idVysledku
RIV/00216208:11110/14:10291104
n3:jazykVysledku
n6:eng
n3:klicovaSlova
Osteoarticular phenotype; Mucopolysaccharidosis type VI; Maroteaux-Lamy syndrome; Genotype-phenotype analysis; Cardiac phenotype; Attenuated phenotype
n3:klicoveSlovo
n7:Mucopolysaccharidosis%20type%20VI n7:Genotype-phenotype%20analysis n7:Maroteaux-Lamy%20syndrome n7:Cardiac%20phenotype n7:Attenuated%20phenotype n7:Osteoarticular%20phenotype
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[CC88638D06FE]
n3:nazevZdroje
Clinical Rheumatology
n3:obor
n14:FG
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
5
n3:rokUplatneniVysledku
n15:2014
n3:svazekPeriodika
33
n3:tvurceVysledku
Tylki-Szymanska, Anna Voskoboeva, Elena Zakharova, Ekaterina Jurecka, Agnieszka Malinová, Věra
n3:wos
000335401500020
s:issn
0770-3198
s:numberOfPages
7
n18:doi
10.1007/s10067-013-2423-z
n8:organizacniJednotka
11110