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Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients
Eleven patients from Yakutia with a new lysosomal disease assumed then as mucopolysaccharidosis-plus syndrome (MPS-PS) were reported by Gurinova et al. in 2014. Up to now, a total number of 39 patients have been reported; in all of them, the c.1492C>T (p.Arg498Trp) variant of the VPS33A gene was...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570340/ https://www.ncbi.nlm.nih.gov/pubmed/36232726 http://dx.doi.org/10.3390/ijms231911424 |
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author | Lipiński, Patryk Szczałuba, Krzysztof Buda, Piotr Zakharova, Ekaterina Y. Baydakova, Galina Ługowska, Agnieszka Różdzyńska-Świątkowska, Agnieszka Cyske, Zuzanna Węgrzyn, Grzegorz Pollak, Agnieszka Płoski, Rafał Tylki-Szymańska, Anna |
author_facet | Lipiński, Patryk Szczałuba, Krzysztof Buda, Piotr Zakharova, Ekaterina Y. Baydakova, Galina Ługowska, Agnieszka Różdzyńska-Świątkowska, Agnieszka Cyske, Zuzanna Węgrzyn, Grzegorz Pollak, Agnieszka Płoski, Rafał Tylki-Szymańska, Anna |
author_sort | Lipiński, Patryk |
collection | PubMed |
description | Eleven patients from Yakutia with a new lysosomal disease assumed then as mucopolysaccharidosis-plus syndrome (MPS-PS) were reported by Gurinova et al. in 2014. Up to now, a total number of 39 patients have been reported; in all of them, the c.1492C>T (p.Arg498Trp) variant of the VPS33A gene was detected. Here, we describe the first Polish MPS-PS patient with a novel homozygous c.599G>C (p.Arg200Pro) VPS33A variant presenting over 12 years of follow-up with some novel clinical features, including fetal ascites (resolved spontaneously), recurrent joint effusion and peripheral edemas, normal growth, and visceral obesity. Functional analyses revealed a slight presence of chondroitin sulphate (only) in urine glycosaminoglycan electrophoresis, presence of sialooligosaccharides in urine by thin-layer chromatography, and normal results of lysosomal enzymes activity and lysosphingolipids concentration in dried blood spot. The comparison with other MPS-PS described cases was also provided. The presented description of the natural history of MPS-PS in our patient may broaden the spectrum of phenotypes in this disease. |
format | Online Article Text |
id | pubmed-9570340 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-95703402022-10-17 Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients Lipiński, Patryk Szczałuba, Krzysztof Buda, Piotr Zakharova, Ekaterina Y. Baydakova, Galina Ługowska, Agnieszka Różdzyńska-Świątkowska, Agnieszka Cyske, Zuzanna Węgrzyn, Grzegorz Pollak, Agnieszka Płoski, Rafał Tylki-Szymańska, Anna Int J Mol Sci Article Eleven patients from Yakutia with a new lysosomal disease assumed then as mucopolysaccharidosis-plus syndrome (MPS-PS) were reported by Gurinova et al. in 2014. Up to now, a total number of 39 patients have been reported; in all of them, the c.1492C>T (p.Arg498Trp) variant of the VPS33A gene was detected. Here, we describe the first Polish MPS-PS patient with a novel homozygous c.599G>C (p.Arg200Pro) VPS33A variant presenting over 12 years of follow-up with some novel clinical features, including fetal ascites (resolved spontaneously), recurrent joint effusion and peripheral edemas, normal growth, and visceral obesity. Functional analyses revealed a slight presence of chondroitin sulphate (only) in urine glycosaminoglycan electrophoresis, presence of sialooligosaccharides in urine by thin-layer chromatography, and normal results of lysosomal enzymes activity and lysosphingolipids concentration in dried blood spot. The comparison with other MPS-PS described cases was also provided. The presented description of the natural history of MPS-PS in our patient may broaden the spectrum of phenotypes in this disease. MDPI 2022-09-28 /pmc/articles/PMC9570340/ /pubmed/36232726 http://dx.doi.org/10.3390/ijms231911424 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Lipiński, Patryk Szczałuba, Krzysztof Buda, Piotr Zakharova, Ekaterina Y. Baydakova, Galina Ługowska, Agnieszka Różdzyńska-Świątkowska, Agnieszka Cyske, Zuzanna Węgrzyn, Grzegorz Pollak, Agnieszka Płoski, Rafał Tylki-Szymańska, Anna Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients |
title | Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients |
title_full | Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients |
title_fullStr | Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients |
title_full_unstemmed | Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients |
title_short | Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients |
title_sort | mucopolysaccharidosis-plus syndrome: report on a polish patient with a novel vps33a variant with comparison with other described patients |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9570340/ https://www.ncbi.nlm.nih.gov/pubmed/36232726 http://dx.doi.org/10.3390/ijms231911424 |
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