Mucopolysaccharidosis type <scp>VI</scp> in <scp>R</scp>ussia, <scp>K</scp>azakhstan, and Central and Eastern <scp>E</scp>urope

Abstract

The observed high p.R152W carrier frequency in the Lithuanian population may indicate a possible founder effect in this region. The high prevalence of this mutation observed in the whole series, as well as the Slavic origin of the majority of patients homozygous for this mutation, suggest that p.R152W may be of Slavic, not Lithuanian origin. Resettlement of the Polish population after World War II resulted in dilution of the prevalence of carriers in Poland and a very low MPS VI incidence.