Clinical and molecular genetic description of a new type of mucopolysaccharidosis in Yakutia

Background. This article provides data on the clinical and molecular genetic description of a new hereditary disease with an autosomal recessive inheritance - mucopolysaccharidosis-plus syndrome, first described in the Yakut population and in one Turkish family. The syndrome belongs to the group of lysosomal diseases and was included into the international database of hereditary diseases OMIM under the number # 617303. Aim. To describe clinical and molecular genetic characteristics of mucopolysaccharidosis-plus syndrome in patients observed in Yakutia from 2006 to 2020. Methods. The material for the study was clinical data from genetic records of 17 patients from 15 Yakut families, who were observed and registered in the «Republican genetic register of hereditary and congenital pathology of the Medical Genetic Center of the Republic hospital No. 1 - National Center of Medicine» in Yakutsk city. Results. The clinical phenotype is manifested by typical clinical signs of mucopolysaccharidosis, but with a more severe course of the disease, leading to early infant death of patients. Mucopolysaccharidosis-plus syndrome cannot be diagnosed enzymatically. All patients were found to have a specific p.R498W mutation in the VPS33A gene in a homozygous state, and in their parents in a heterozygous state. Conclusions. A characteristic sign of mucopolysaccharidosis plus syndrome is early manifestation and infant mortality, as well as multisystem damage to organs: lungs, kidneys, heart, central nervous and hemopoietic systems.

mucopolysaccharidosis - plus syndrome, MPS-PS, Yakuts, VPS33A

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