Findings of type IIIa mucolipidosis in patients of the Republic of Tyva

Abstract

The article is devoted to a rare pathology from the group of accumulation diseases with an autosomal recessive type of inheritance - type IIIA mucolipidosis in patients of the indigenous population of the Republic of Tyva. Ten children with this rare disease were examined. The main clinical symptoms of the disease are shown; 3 consecutive stages of diagnostic measures are presented, on the basis of which a new nucleotide substitution c. 3169T> G was found in all patients; Cys1057Gly in exon 16 of the GNPTAB gene. Revealed replacement was found in all patients in a homozygous state. It has been suggested that this option of replacement is a consequence of the effect of the ancestor and its carriage is characteristic only of persons of Tuvan nationality. For effective medical and genetic counseling of Tyva families, a population survey of the indigenous population of the Tuvan Republic on the carriage of the mutant GNPTAB gene is recommended.