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Age of mucopolysaccharidosis-plus syndrome mutation in the Republic of Sakha (Yakutia)

https://doi.org/10.25557/2073-7998.2025.01.34-45

Abstract

Mucopolysaccharidosis-plus syndrome (MPSPS, OMIM # 617303) – is a rare autosomal recessive inherited disorder caused by a c.1492C>T mutation in exon 12 of the VPS33A gene. The disease is characterised by a ‘gargoylism’ phenotype, including skeletal anomalies, heart damage, joint contractures, delayed psychomotor and physical development, and additional disorders of the kidney and haematopoietic system. The clinical picture of MPSPS was initially delineated by the medical team at the Medical and Genetic Centre of Yakutsk in 2014, and the underlying molecular genetic cause was subsequently identified in 2017. In the paper, a ‘founder haplotype’ of the MPSPC locus was established through linkage disequilibrium analysis of 11 microsatellite markers, indicating the accumulation of the mutation as a result of the founder effect. The time of spread of the mutation in Yakutia was determined to be 2312 ± 1375 years. The average value of the number of generations that have passed since the beginning of the spread of the c.1492C>T mutation in the Yakut population was found to be 92,5.

About the Authors

S. N. Novgorodova
North-Eastern Federal University
Russian Federation

68, Belinsky st., Yakutsk, 677013



A. I. Fedorov
North-Eastern Federal University
Russian Federation

68, Belinsky st., Yakutsk, 677013



P. I. Golikova
North-Eastern Federal University
Russian Federation

68, Belinsky st., Yakutsk, 677013



A. L. Sukhomyasova
North-Eastern Federal University
Russian Federation

68, Belinsky st., Yakutsk, 677013



V. N. Kharkov
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation

10, Naberejnaya Ushaiki, Tomsk, 634050



V. A. Stepanov
Tomsk National Research Medical Center of the Russian Academy of Sciences, Research Institute of Medical Genetics
Russian Federation

10, Naberejnaya Ushaiki, Tomsk, 634050



N. R. Maksimova
North-Eastern Federal University
Russian Federation

68, Belinsky st., Yakutsk, 677013



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Review

For citations:


Novgorodova S.N., Fedorov A.I., Golikova P.I., Sukhomyasova A.L., Kharkov V.N., Stepanov V.A., Maksimova N.R. Age of mucopolysaccharidosis-plus syndrome mutation in the Republic of Sakha (Yakutia). Medical Genetics. 2025;24(1):34-45. (In Russ.) https://doi.org/10.25557/2073-7998.2025.01.34-45

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ISSN 2073-7998 (Print)