Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients

• Published in: International journal of molecular sciences 2022-09, Vol.23 (19), p.11424
• Main Authors: 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
• Format: Article
• Language: English
• Subjects: Age; Arthritis; Ascites; Blood levels; Chondroitin Sulfates - urine; Creatinine; Disease; Effusion; Electrophoresis; Enzymes; Families & family life; Fetuses; Genetic disorders; Glycosaminoglycans; Glycosaminoglycans - urine; Heparan sulfate; Humans; Laboratories; Liver; Lysosomal enzymes; lysosomal storage disease; Metabolic disorders; Mucopolysaccharidoses - blood; Mucopolysaccharidoses - diagnosis; Mucopolysaccharidoses - genetics; Mucopolysaccharidoses - urine; Mucopolysaccharidosis; mucopolysaccharidosis-plus syndrome; Mutation; Patients; Phenotypes; Pneumonia; Poland; Sphingolipids - blood; Thin layer chromatography; Ultrasonic imaging; Vesicular Transport Proteins - genetics; VPS33A
• ISSN: 1422-0067; 1661-6596; 1422-0067
• DOI: 10.3390/ijms231911424

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.