Rare case of Hunter syndrome in a girl

Hunter syndrome (mucopolysaccharidosis type II) is a recessive X-linked disorder due to mutations in the iduronate 2-sulfatase (IDS) gene encoding a lysosomal iduronate 2-sulfatase.

The disease occurs almost exclusively in males. Onle 12 cases of the disease are reported in females. We demonstrate a rare case of Hunter syndrome in a girl caused by a mutation in the IDS gene inherited from the mother and the presence of chromosome X of paternal origin, partially deleted in the long arm region - 46,X,del(X)(q22.1).


Semyachkina AN, Voskoboeva EY, Zakharova EY, Nikolaeva EA, Kanivets IV, Kolotii AD, Baydakova GV, Kharabadze MN, Kuramagomedova RG, Melnikova NV. Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl. BMC Med Genet. 2019. 20(1):66. doi: 10.1186/s12881-019-0807-x.