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