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Table 5 Summary of some patients with a mild form and a mild -> intermediate form of Hunter syndrome

From: Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)

Family # Patient # Age at diagnosis Enzyme activity in plasma
(N = 297–705 nmol/4h/ml)
Nucleotide variant in IDS gene Education Profession Date of death Comment
3 4 10 1.2 c.236C>A (p.Ala79Glu) University Teacher 43
5 8 8.4 c.236C>A (p.Ala79Glu) University Economist
(38 years old)
Active life
4 6 11 7.4 c.305T>G (p.Leu102Pro) University Economist
35 years old)
Active life
7 9 8.1 c.305T>G (p.Leu102Pro) University Economist
(33 years old)
Active life
10 19 15 3.6 c.1234G>T (p.Gly412Term) University Lawyer
(32 years old)
Active life
20 29 3 1.4 c.1204G>A (p.Glu402Lys) University Lawyer 23 The cause of death is unprofessional tracheal intubation, carried out with the aim of removing the patient from the epileptic status
15 24 13 0.01 c.253G>A (p.Ala85Thr) historic Historian 29 Sudden death from acute cardiovascular failure