From: Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
Patient | Phenotype | DMD mutation | Muscle biopsy features | Dystrophin immunostaining | Blood DNA XCI | Muscle DNA XCI | Most inactive X-chr. | Origin of DMD mutation | Familial skewed XCI |
---|---|---|---|---|---|---|---|---|---|
1 | DMD-like | Deletion exons 1–44 (c.(?_-244)_6438 + ?del, frameshift) | Severe dystrophic pattern | Generalized absence | 93:7 | n/p | maternal | paternal | yes |
2 | DMD-like | Subexonic deletion/insertion exon 17 (c.2095delinsTC, frameshift) | End-stage muscular dystrophy | n/p | 100:0 | 51:49 | paternal | n/p | no |
3 | D/BMD-like | Stop exon 8 (c.724C > T, p.Gln242X) | Severe dystrophic pattern | Generalized absence | 100:0 | 61:39 | paternal | n/p | yes |
4 | Severe BMD-like | Splice site exon 27 (c.3786 + 1G > A, predicted frameshift) | Moderate dystrophic pattern | Mosaic pattern | 94:6 | 81:19 | paternal | maternal | yes |
5 | Severe BMD-like | Deletion exon 68 (c.9808-?_9974 + ?del, frameshift) | Moderate dystrophic pattern | Mosaic pattern | 69:31 | n/p | maternal | n/p | yes |
6 | Severe BMD-like | Stop exon 41 (c.5893C > T, p.Gln1965X) | Severe dystrophic pattern | Reduction/absence in isolated fibres | 74:26 | 52:48 | n/i | n/p | yes |
7 | Severe BMD-like | Deletion exons 5–7 (c.265-?_649 + ?del, frameshift) | Severe dystrophic pattern | Mosaic pattern | 81:19 | 87:12 | n/p | n/p | n/p |
8 | Severe BMD-like | Deletion exon 44 (c.6291-?_6438 + ?del, frameshift) | Moderate dystrophic | Mosaic pattern with predominance of negative fibres | 100:0 | n/p | n/p | n/p | n/p |
9 | Mild BMD-like | Deletion exons 43–45 (c.6118-?_6614 + ?del, frameshift) | Mild dystrophic pattern | Mosaic pattern | n/i | n/p | n/p | n/p | n/p |
10 | Mild BMD-like | Deletion exons 45–50 (c.6439-?_7309 + ?del, frameshift) | Moderate dystrophic pattern. | Mosaic pattern | 71:29 | n/p | n/i | maternal | no |
11 | Mild BMD-like | Deletion exons 53–54 (c.7661-?_8027 + ?del, frameshift) | Mild dystrophic pattern | Reduction/absence in isolated fibres | 81:19 | n/p | n/i | maternal | no |
12 | Mild BMD-like | Duplication exons 50–55 (c.7201-?_8217 + ?dup, predicted in-frame) | n/p | n/p | n/i | n/p | n/p | maternal | n/p |
13 | Mild BMD-like | Splice site exon 48 (c.6913-1G > A, frameshift) | Mild dystrophic pattern | Mosaic pattern | 81:19 | 53:47 | maternal | maternal | yes |
14 | Mild BMD-like | Splice site exon 48 (c.6913-1G > A, frameshift) | n/p | n/p | 72:28 | n/p | paternal | maternal | yes |
15 | Mild BMD-like | Deletion exons 48–50 (c.6913-?_7309 + ?del, frameshift) | Mild dystrophic pattern | Mosaic pattern | 52:48 | 40:60 | n/p | n/p | n/p |
16 | DCM | Deletion exon 44 (c.6291-?_6438 + ?del, frameshift) | n/p | n/p | 99:1 | n/p | n/i | n/p | Yes |
17 | DCM | Deletion exons 46–52 (c.6615-?_7660 + ?del, frameshift) | n/p | n/p | 63:37 | n/p | n/p | n/p | n/p |
18 | Behavioural issues | Duplication exons 13–27 (c.1483-?_3786 + ?dup, predicted in-frame) | Myopathic changes | Normal | 99:1 | 97:3 | paternal | maternal | Yes |
19 | MR | Subexonic deletion exon 46 (c.6638delT, frameshift) | Myopathic changes | Absence in isolated fibres | 88:12 | 69:31 | paternal | maternal | yes |
20 | MR | Deletion exons 46–55 (c.6615-?_8217 + ?del, frameshift) | n/p | n/p | 100:0 | n/p | paternal | maternal | n/i |
21 | Myalgia | Duplication exons 38–43 (c.5326-?_6290 + ?dup, predicted frameshift) | n/p | n/p | 74:26 | n/p | paternal | maternal | yes |
22 | Myalgia | Deletion exons 10–43 (c.961-?_6290 + ?del, frameshift) | n/p | n/p | 51:49 | n/p | n/p | n/p | n/p |
23 | Myalgia | Deletion exon 7 (c.531-?_649 + ?del, frameshift) | Myopathic changes | Reduction/absence in isolated fibres | 78:22 | n/p | n/p | n/p | n/p |
24 | Myalgia | Deletion exons 3–13 (c.94-?_1602 + ?del, in-frame) | Myopathic changes | Mosaic pattern | 50:50 | n/p | n/p | n/p | n/p |