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Table 4 Mutation spectrum in the IDS gene in patients with MPS II

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

Family number Patient number Age at diagnosis Enzyme activity in plasma
(N = 297–705 nmol/4h/ml)
Enzyme activity in dried blood spots
(N = 2.5–50 μmM/l/h)
Phenotype Nucleotide/protein change in IDS gene
1 1 7 16.2   Mild c.187A>G; p.Aspn63Asp
2 2 31 21.1   Mild c.187A>G; p.Aspn63Asp
3 32 18.2   Mild c.187A>G; p.Aspn63Asp
3 4 8 1.2   Mild c.236C>A; p.Ala79Glu
5 10 8.4   Mild c.236C>A; p.Ala79Glu
4 6 11 7.4   Mild c.305T>G; p.Leu102Arg
7 9 8.1   Mild c.305T>G; p.Leu102Arg
5 8 55 0.01 Mild c.590C>T; p.Pro197Leu
9 12 0.01 Mild c.590C>T; p.Pro197Leu
10 5 0.01 Mild c.590C>T; p.Pro197Leu
11 11 0.01 Mild c.590C>T; p.Pro197Leu
6 12 16 14.7   Mild c.593A>G; p.Asp198Gly
7 13 23 8.4   Mild c.1019G>A; p.Gly340Asp
14 19 6.1   Mild c.1019G>A; p.Gly340Asp
8 15 33 11.7   Mild c.1019G>A; p.Gly340Asp
9 16 35 0.01   Mild p.1037C>T; p.Ala346Val
17 23 0.05   Mild p.1037C>T; p.Ala346Val
18 18 0.07   Mild p.1037C>T; p.Ala346Val
10 19 15 3.6   Mild c.1234G>T; p.Gly412Term
11 20 11 9.4   Mild -> intermediate c.253G>A; p.Ala85Thr
12 21 9 10.4   Mild -> intermediate c.253G>A; p.Ala85Thr
13 22 6 18.6   Mild -> intermediate c.253G>A; p.Ala85Thr
14 23 9 14.4   Mild -> intermediate c.253G>A; p.Ala85Thr
15 24 13 0.01   Mild -> intermediate c.253G>A; p.Ala85Thr
16 25 8 0.02   Mild -> intermediate c.253G>T; p.Ala85Ser
17 26 13 11.3   Mild -> intermediate c.587T>C; p.Leu196Ser
18 27 5 4.7   Mild -> intermediate c.587T>C; p.Leu196Ser
19 28 2 2.1   Mild -> intermediate c.1204G>A; p.Glu402Lys
20 29 3 1.4   Mild -> intermediate c.1204G>A; p.Glu402Lys
21 30 4 0.01 Mild -> intermediate c.1438_1442delCCGAG; p.Pro480Phefs
22 31 28 14.8   Mild -> intermediate c.1028G>A; p.Gly343Glu
23 32 11 7.4   Mild -> intermediate c.1034G>C; p.Trp345Ser
24 33 25 4.8   Mild -> intermediate c.1035G>C, p.Trp345Cys
25 34 8 5.1   Mild -> intermediate IVS2 as C-G -9; c.241-9C>G
35 10 5.2   Mild -> intermediate IVS2 as C-G -9; c.241-9C>G
26 36 7 0.1   Intermediate -> severe c.283A>T; p.Arg95Trp
27 37 7 0.01   Intermediate -> severe c.512G>A; p.Cys171Tyr
28 38 5 8.4   Intermediate -> severe c.545T>C; p.Leu182Pro
29 39 6 2.3   Intermediate -> severe c.551G>T; p.Cys184Phe
30 40 6 2.7   Intermediate -> severe c.1327C>T; p.Arg443Term
31 41 7 3.18   Intermediate -> severe c.1327C>T; p.Arg443Term
32 42 2 0.01 Intermediate -> severe c.1327C>T; p.Arg443Term
33 43 13 21.6   Intermediate -> severe c.1411G>C; p.Asp471His
c.1418C>T; p.Pro473Leu
34 44 14 2.2   Intermediate -> severe IVS6 ds G-A +1; c.879+1G>A
35 45 11 0.01   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
36 46 11 0.01   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
37 47 6 0.02   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
38 48 8 0.01   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
39 49 4 0.01   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
40 50 5 2.2   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
41 51 3 0.01   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
42 52 7 0.01   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
43 53 18 0.01   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
44 54 4 4.9   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
45 55 7 2.3   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
46 56 4 7.2   Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
47 57 5    Intermediate -> severe IVS8 ds C-T -59; c.1122C>T
48 58 3 4.9   Intermediate -> severe c.118_120delCTC; p.Leu40del
49 59 4 21.4   Intermediate -> severe c.121_123delCTC p.Leu41del
50 60 6 0.01   Intermediate -> severe c.625_627del TTG p.Leu209del
51 61 9 4.4   Intermediate -> severe c.1426_1437 del12; p.476_479delAsnSerAspLys
52 62 6 8.3   Severe c.103G>C; p.Asp35His
63 4 10.4   Severe c.103G>C; p.Asp35His
53 64 3 0.35   Severe c.136G>T; p.Asp46Tyr
54 65 3 0.01 Severe c.136G>A; p.Asp46Asn
55 66 4 0.1   Severe c.160T>G; p.Tyr54Asp
56 67 4 4.6   Severe c.257C>T; p. Pro86Leu
57 68 5 5.1   Severe c.257C>T; p. Pro86Leu
58 69 2 3.5   Severe c.257C>T; p. Pro86Leu
59 70 10 11.8   Severe c.257C>G; p. Pro86Arg
60 71 6 0.01   Severe c.263G>A; p.Arg88His
72 3 0.01   Severe c.263G>A; p.Arg88His
61 73 3 0.7   Severe c.263G>A; p.Arg88His
74 4 0.8   Severe c.263G>A; p.Arg88His
62 75 7 0.01 Severe c.263G>A; p.Arg88His
63 76 3 0.01   Severe c.263G>A; p.Arg88His
64 77 5 0.01   Severe c.263G>T; p.Arg88Leu
65 78 4 0.02   Severe c.262C>T; p.Arg88Cys
66 79 5 0.01   Severe c.262C>T; p.Arg88Cys
67 80 4 0.01   Severe c.262C>T; p.Arg88Cys
68 81 3 0.01   Severe c.262C>T; p.Arg88Cys
69 82 4 3.2   Severe c.263G>C; p.Arg88Pro
70 83 8 0.01   Severe c.307T>G; p.Tyr103Asp
71 84 5 4.8   Severe c.325T>C; p.Trp109Arg
72 85 6 1.37   Severe c.325T>C; p.Trp109Arg
73 86 1 0.01 Severe c.359C>G; p.Pro120Arg
74 87 4 0.01   Severe c.395C>G; p.Ser132Trp
75 88 9 0.01   Severe c.395C>G; p.Ser132Trp
76 89 3 0.01   Severe c.403A>G; p.Lys135Glu
77 90 10 0.1   Severe c.476A>C; p.His159Pro
78 91 5 0.01   Severe c.671G>A; p.Gly224Glu
79 92 5 1.2   Severe c.697A>G; p.Arg233Gly
93 2 1.59   Severe c.697A>G; p.Arg233Gly
80 94 1.5 0.01   Severe c.697A>G; p.Arg233Gly
81 95 15 4.1   Severe c.776T>C; p.Leu259Pro
82 96 3 0.15   Severe c.795C>A; p.Asn265Lys
83 97 3 0.49   Severe c.795C>A; p.Asn265Lys
84 98 3 10.8   Severe c.795C>G; p.Asn265Lys
85 99 10 0.01   Severe c.998C>T; p.Ser333Leu
86 100 7 0.01   Severe c.998C>T; p.Ser333Leu
87 101 6 0.01   Severe c.998C>T; p.Ser333Leu
88 102 7 0.01   Severe c.998C>T; p.Ser333Leu
89 103 5 0.01   Severe c.998C>T; p.Ser333Leu
90 104 7 0.01   Severe c.998C>T; p.Ser333Leu
91 105 1 3.5   Severe c.998C>T; p.Ser333Leu
92 106 2 0.01   Severe c.1004A>G; p.His335Arg
93 107 5 2.7   Severe c.1006G>C; p.Gly336Arg
94 108 10 0.1   Severe c.1295G>A; p.Cys432Tyr
95 109 4 0.01   Severe c.1295G>A; p.Cys432Tyr
96 110 4 5.4   Severe c.1402C>T; p.Arg468Trp
97 111 2 0.1   Severe c.1402C>T; p.Arg468Trp
98 112 3 0.01   Severe c.1402C>T; p.Arg468Trp
99 113 5 0.1   Severe c.1402C>T; p.Arg468Trp
100 114 3 0.01 Severe c.1402C>T; p.Arg468Trp
101 115 3 0.01   Severe c.1403G>A; p.Arg468Gln
102 116 3 0.9   Severe c.1403G>A; p.Arg468Gln
117 3 0.01   Severe c.1403G>A; p.Arg468Gln
103 118 5 1.4   Severe c.1403G>A; p.Arg468Gln
104 119 2 0.01   Severe c.1403G>A; p.Arg468Gln
105 120 2 6.3   Severe c.1403G>A; p.Arg468Gln
121 4 2.8   Severe c.1403G>A; p.Arg468Gln
106 122 3 10.8   Severe c.1403G>A; p.Arg468Gln
107 123 4 0.01   Severe c.1403G>A; p.Arg468Gln
108 124 2 3.12   Severe c.1403G>A; p.Arg468Gln
109 125 4 0.01   Severe c.1432G>T; p.Asp478Tyr
110 126 7 0.1   Severe c.1432G>A; p.Asp478Asn
111 127 6 0.01   Severe c.1454T>G; p.Ileu485Arg
112 128 6 0.01   Severe c.1454T>G; p.Ileu485Arg
113 129 8 0.01   Severe c.1565T>C; p.Leu522Pro
114 130 3 0.15   Severe c.196C>T; p.Gln66Term
115 131 2 0.01   Severe c.361C>T; p.Gln121Term
116 132 3 4.5   Severe c.514C>T; p.Arg172Term
117 133 4 2.7   Severe c.514C>T; p.Arg172Term
118 134 2 7.8   Severe c.514C>T; p.Arg172Term
119 135 4 4.32   Severe c.514C>T; p.Arg172Term
120 136 4 8.4   Severe c.514C>T; p.Arg172Term
121 137 2 0.01 Severe c.514C>T; p.Arg172Term
122 138 6 0.01   Severe c.598C>T p.Gln200Term
123 139 2 2.1   Severe c.598C>T p.Gln200Term
124 140 12 0.9   Severe c.800G>A; p.Trp267Term
125 141 5 0.01   Severe c.814C>T; p.Gln272Term
126 142 4 2.1   Severe c.829C>T; Gln277Term
127 143 8 18   Severe c.998C>A; p.Ser333Term
144 2 10.1   Severe c.998C>A; p.Ser333Term
128 145 3 0.18   Severe c.1010G>A; p.Trp337Term
129 146 3 4.4   Severe c.1010G>A; p.Trp337Term
130 147 1 0.07   Severe c.1288G>T; p.Glu430Term
131 148 6 0.01   Severe c.1340T>A; p.Leu447Term
132 149 3 0.01   Severe c.1375G>T; p.Glu459Term
133 150 3.5 0.01   Severe c.1445T>G; p.Leu482Term
134 151 6 0.01   Severe c.1608T>A;p.Tyr536Term
135 152 4 0.01   Severe IVS1 as A-G -2; c.104-2A>G
136 153 4 0.01   Severe IVS2 ds G-C +1; c.240+1G>C
137 154 4 4.8   Severe IVS2 ds G-T +1; c.240+1G>T
138 155 7 0.01   Severe IVS4 ds G-A +1; c.507+1G>A
139 156 16 3.96   Severe IVS4 ds G-A +1; c.507+1G>A
140 157 9 3.6   Severe IVS6 as A-G -2; c.880-2A>G
141 158 4 1.14   Severe IVS7 ds T-G +2c.1006+2T>G
142 159 5 0.01   Severe IVS7 as G-A -1; c.1007-1G>A
143 160 5 0.01   Severe IVS8 as C-A -15; c.1181-15C>A
144 162 6 2.1   Severe c.133delG p.Asp45Metfs
145 163 1.5 0.12   Severe c.248delT; p.Val83Glyfs
146 164 3 0.01   Severe c.305delT; p.Leu102Argfs
147 165 2 1.4   Severe c.404_405delAA; p.Lys135Serfs
148 166 2 2.52   Severe c.410_411delTT p.Phe137Sfs
149 167 6 4.2   Severe c.596_599delAACA;p.(Lys199Argfs)
150 168 9 0.58   Severe c.596_599delAACA;p.(Lys199Argfs)
151 169 7 1.2   Severe c.596_599delAACA;p.(Lys199Argfs)
152 170 5 9.1   Severe c.596_599delAACA;p.(Lys199Argfs)
153 171 4 0.7   Severe c.596_599delAACA;p.(Lys199Argfs)
154 172 3 18.1   Severe c.613delG; p.Ala205Profs
155 173 9 0.01   Severe c.667-683del17; p.Val223Thrfs
156 174 5 0.01   Severe c.687delC; p.His229Glnfs
157 175 6 2.3   Severe c.715_721del7; p.Gln239Cysfs
158 176 2 0.01   Severe c.782delC p.Pro261Lfs
159 177 13 0.66   Severe c.800_801delGG; p.Trp267Tyrfs
160 178 4 0.01   Severe c.899_900delAC; p.Tyr300Phefs
161 179 8 8.04   Severe c.908_909delCT; p.Ser303Cysfs
162 180 1 0.43   Severe c.1077delG; p.Ile360Tyrfs
163 181 12 12.6   Severe c.1129delC p.Leu377Phefs
164 182 4 0.01   Severe c.1191delC p.Met398Trpfs
165 183 6 0.01   Severe c.1214_1220del7 p.Leu406Hisfs
166 184 3 2.3   Severe c.1221delT p.Cys409Arg fs
167 185 16 0.79   Severe c.1353_1357delGTACCp.Tyr452Profs
168 186 3 2.4   Severe c.1431delT; p.Asp478Thrfs
169 187 3 1.9   Severe c.1466delG p.Val489Alafs
170 188 3 0.01 Severe c.776_777dupTA; p.Pro260Tyrfs
171 189 5 0.01   Severe c.801_802insG; p.Met268Aspfs
172 190 4 1.3   Severe c.1151_1152 ins11; p.Phe384Leufs
173 191 9 6.6   Severe c.1239_1240insCT; p.Ala414Leufs
174 192 5 0.01   Severe c.1491_1492dupTA; p.Arg498Ileufs
175 193 4 2.64   Severe del c.104-1_104delGAinsT
176 194 8 0.01   Severe c.240+2_240+3 insTCCCAGA (intron 2)
177 195 4 0.48   Severe c.786-787delGGinsC; p.Ala263Profs
178 196 2 0.01 Severe gDNA level exons 1–3 deletion
179 197 3 0.01 Severe gDNA level exons 1–3 deletion
180 198 7 1.9   Severe gDNA level exons 1–4 deletion
181 199 4 0.01   Severe gDNA level exons 1–7 deletion
200 1 0.01   Severe gDNA level exons 1–7 deletion
182 201 2 4.2   Severe gDNA level exon 4 deletion
183 202 5 0.01   Severe cDNA level del incl. ex 5–6
184 203 2 9.6   Severe gDNA level exon 7 deletion
185 204 5 0.01   Severe Complete IDS del
205 3 0.01   Severe Complete IDS del
186 206 2 1.3   Severe Complete IDS del
187 207 3 0.01   Severe Complete IDS del
188 208 7 0.01   Severe Complete IDS del
189 209 10 0.01   Severe Complete IDS del
190 210 3 0.01   Severe Complete IDS del
191 211 2 0.01   Severe Complete IDS del
192 212 5 0.01   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS-2 without exons deletion
193 213 2 0.01   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
194 214 3 0.01   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
195 215 6 2.5   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
196 216 6 7.2   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
197 217 6 0.43   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
198 218 3 2.4   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
199 219 3 0.01   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
220 13 3.6   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
200 221 5 0.01   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
201 222 2 0.01   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
202 223 1 5.1   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
203 224 5 2.3   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
204 225 1 0.01   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS without exons deletion
205 226 3 0.01   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS with 3–7 exons deletion
206 227 2 0.01   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS with 3–7 exons deletion
207 228 3 0.12   Severe Recomb. between in. 7 and seq. distal of ex. 3 in IDS with 3–7 exons deletion