From: Clinical expression of Menkes disease in females with normal karyotype
Family, mutation type | Unaffected carriers (n = 34). Inactivation mutant X:normal X | Non-carriers (n = 28) Activity of X1:X2 |
---|---|---|
942, 1 bp dup exon 10 | 2 people: 93:7% (AM45F); 91:9% (AM44F) | 1 person: 46:54% (AM93F) |
91207, nonsense exon 18 | 3 people: 99-100:1-0% (28386B; 28384B; 28356B). | 1 person: 83:17% (28388B) |
1 person: 54:46% (36054B) | 1 person: 73:27% (36052B) | |
2 people: 58:42% (28389B); 58:42% (36053B) | ||
93210, 2 bp dup exon 21 | 2 people: 90:10% (12499B); 98:2% (12496B) | |
9129, splicing intron 9 | 1 person: 100:0% (92-5408T) | 2. people: 68:32% (91-581T); 65:35% (91-420T) |
1 person: 86:14% (91-578T) | ||
93220, splicing intron 6 | 2 people: 100:0%(12809F); 100:0% (12810F) | 1 person: 90:10% (12746F) |
1 person: 60:40% (12745F) | ||
94252, missense exon 10 | 2 people: 94:6% (29620B); 100:0% (29623B) | 1 person: 80:20% (29619B) |
1 person: 80:20% (29617B) | 2 people: 51:49% (29621B); 56:44% (29624B) | |
95254, missense exon 10 | 2 people: 98:2% (48625B); 91:8% (48627B) | 1 person: 61:39% (48626B) |
1 person: 74:26% (46672B) | ||
94267, missense exon 12 | 2 people: 75:25% (37443B); 84:16% (37435B) | 1 person: 74:26% (37437B) |
2 people: 51:49%(3744B2); 52:48% (37440B) | ||
9328, missense exon 12 | 1 person: 100:0% (2429T) | 1 person: 78:22% (2351T) |
1 person: 52:48% (2350T) | ||
91204, exon 3_4del | 2 people: 99:1% (11559F; 11761F) | 1 person: 91:9% (11864B) |
1 person: 73:27% (11863B) | ||
96249, exon 8_9del | 2 people: 87:13% (65547B); 83:17% (63056B) | 1 person: 73:27% (67297B) |
1 person: 78:22% (65646B) | ||
9727, exon 12_15 del | 1 person: 81:19% (78773B) | 1 person: 86:14% (29898F) |
1 person: 73:27% (32531B) | ||
1 person: 62:38% (32532B) | ||
91262, exon 13_17del | 3 people: 99-100:1-0% (AM261F, AM264F, 51646F) | |
9720, missense exon 20 | 1 person: 92:8% (67806F) | 1 person: 53:47% (67884F) |
2 people: 48:52% (67808F); 37:63% (67804F) | ||
91269, exon 13_17del | 1.person:100:0% (D91-538T) | 2 people:100:0% (553T); 100:0% (10340T) |
1 person: 60:40% (38179F) |