[Mucopolysaccharidosis II (Hunter syndrome): identification of the carrier state of the disease by means of mutation analysis].

Identification of iduronate-2-sulfatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection in females, relatives of the patients. We describe here a study on a Hunter family where, after the identification of the primary genetic defect in the patients, we identified carriers unambiguously among at-risk female relatives and excluded such status in other subjects. This is an example of direct, DNA based diagnosis.