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Case Reports
. 2017 May;37(5):435-439.
doi: 10.1002/pd.5028. Epub 2017 Mar 12.

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII

Francyne Kubaski  1   2   3 , Ana Carolina Brusius-Facchin  4 , Robert W Mason  1   2 , Pravin Patel  5 , Maira G Burin  4 , Kristiane Michelin-Tirelli  4 , Rejane Gus Kessler  4 , Fernanda Bender  4 , Sandra Leistner-Segal  4   6 , Carolina A Moreno  7 , Denise P Cavalcanti  7 , Roberto Giugliani  3   4   6   8 , Shunji Tomatsu  1   2
Affiliations
Case Reports

Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII

Francyne Kubaski et al. Prenat Diagn. 2017 May.

Abstract

Objective: The aim of this study was to quantify glycosaminoglycans (GAGs) in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies.

Method: Disaccharides were measured by liquid chromatography tandem mass spectrometry, compared to age-matched controls. Enzyme assay was performed in AF supernatant or cultured amniocytes. GUSB was analyzed by next generation sequencing using Ion Torrent Personal Genome Machine with a customized panel.

Results: No activity of β-glucuronidase was detected in fetal cells. The pregnancy was spontaneously terminated in the third trimester. Genetic studies identified a homozygous mutation of p.N379D (c.1135A > G) in the GUSB gene. Liquid chromatography tandem mass spectrometry showed that chondroitin sulfate, dermatan sulfate, heparan sulfate, and keratan sulfate levels were markedly increased in the MPS VII AF, compared to those in age-matched control AF (dermatan sulfate, heparan sulfate, and chondroitin-6-sulfate more than 10 × than age-matched controls; chondroitin-4-sulfate and keratan sulfate more than 3 times higher).

Conclusion: This is the first report of specific GAG analysis in AF from an MPS VII fetus, indicating that GAG elevation in AF occurs by 21 weeks of gestation and could be an additional tool for prenatal diagnosis of MPS VII and potentially other MPS types. © 2017 John Wiley & Sons, Ltd.

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Conflict of interest statement

Conflict of Interest: Francyne Kubaski, Ana Carolina Brusius-Facchin, Robert W. Mason, Pravin Patel, Maira G. Burin, Kristiane Michelin-Tirelli, Rejane G. Kessler, Fernanda Bender, Sandra Leistner-Segal, Carolina Moreno, Denise P. Cavalcanti, Roberto Giugliani, and Shunji Tomatsu declare that they have no conflict of interests.

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