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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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