Employees of the Laboratory of Hereditary Metabolic Diseases at RCMG Described a New Genetic Version of MPS-PS in Association with Polish Colleagues

Mucopolysaccharidoses (MPS) is a group of hereditary metabolic diseases associated with glycosaminoglycan metabolism disorder that results in multiple systemic lesions of organs and tissues. These diseases are caused by mutations in the genes that control the intra-lysosomal hydrolysis of macromolecules.

In 2014, 11 patients from Yakutia were diagnosed with a new hereditary disease with an autosomal recessive type of inheritance, belonging to the group of lysosomal diseases, clinically similar to MPS, leading to early infant mortality and caused by mutation in the gene VPS33A, named mucopolysaccharidosis-plus syndrome (MPS-PS). To date, 39 patients have been registered, each with a variant c.1492C>T (p.Arg498Trp) of the VPS33A gene.

In an article published by «International Journal of Molecular Sciences» specialists of RCMG together with Polish colleagues described the phenotype of the first Polish patient with a new homozygous variant c.599G>C (p.Arg200Pro) of the VPS33A gene. Observation of this patient over 12 years revealed some new clinical signs, including fetal ascites (spontaneously resolved), effusion and peripheral oedema, normal growth and visceral obesity. Functional tests revealed a negligible presence in the urine of chondroitinsulfate, sialooligosaccharides, and normal results of lysosomal enzyme activity and lysosphyngolipid concentration in the dried blood spot.

The description of this patient in the article in comparison with the previously described cases of MPS-PS expands the spectrum of phenotypes in this disease.

You can read the work following the link: https://doi.org/10.3390/ijms231911424