Table 1.
Mutation Detected in Dystrophin Gene
| Size of deletion or duplication | Independent cases (N = 120) | Distribution (%) | Exon deleted or duplicated | Fragment deleted or duplicated Δ | IF/OF OF | Minimal deletion/duplication (bp) |
| 1 exon (n = 32) | 1 | 0.83 | DelEX07 | c.531-?*_649+?*del | OF | 118 |
| 1 | 0.83 | DelEX17 | c.1993-?_2168+?del | OF | 175 | |
| 2 | 1.67 | DelEX18 | c.2169-?_2292+?del | OF | 123 | |
| 1 | 0.83 | DelEX19 | c.2293-?_2380+?del | OF | ? | |
| 1 | 0.83 | DelEX35 | c.4846-?_5025+?del | IF | 179 | |
| 2 | 1.67 | DelEX43 | c.6118-?_6290+?del | OF | 172 | |
| 1 | 0.83 | DelEX44 | c.6291-?_6438+?del | OF | 147 | |
| 5 | 4.17 | DelEX45 | c.6439-?_6614+?del | OF | 175 | |
| 2 | 1.67 | DelEX50 | c.7201-?_7309+?del | OF | 108 | |
| 6 | 5 | DelEX51 | c.7310-?_7542+?del | OF | 232 | |
| 6 | 5 | DelEX52 | c.7543-?_7660+?del | OF | 117 | |
| 2 | 1.67 | DelEX53* | c.7661-?_7872+?del | OF | 211 | |
| 2 | 1.67 | DelEX54 | c.7873-?_8027+?del | OF | 154 | |
| 2 exons (n = 10) | 1 | 0.83 | DelEX10-11 | c.961-?_1331+?del | OF | 1020 |
| 1 | 0.83 | DelEX42-43 | c.5923-?_6290+?del | OF | 22747 | |
| 2 | 1.67 | DelEX46-47 | c.6615-?_6912+?del | OF | 2631 | |
| 4 | 3.33 | DelEX48-49 | c.6913-?_7200+?del | IF | 38655 | |
| 2 | 1.67 | DelEX49-50 | c.7099-?_7309+?del | OF | 104 | |
| 3 exons (n = 17) | 1 | 0.83 | DelEX03-05 | c.94-?_357+?del | IF | 26525 |
| 2 | 0.83 | DelEX46-48 | c.6615-?_7098+?del | OF | 57036 | |
| 6 | 5 | DelEX48-50 | c.6913-?_7309+?del | OF | 55398 | |
| 2 | 1.67 | DelEX50-52 | c.7201-?_7660+?del | OF | 90452 | |
| 3 | 2.5 | DelEX51-53 | c.7310-?_7872+?del | OF | 94817 | |
| 1 | 0.83 | DelEX52-54 | c.7543-?_8027+?del | OF | 71758 | |
| 2 | 1.67 | DelEX53-55 | c.7661-?_8217+?del | OF | 51913 | |
| 4 exons (n = 9) | 1 | 0.83 | DelEX10-13 | c.961-?_1602+?del | IF | 49395 |
| 1 | 0.83 | DelEX22-25 | c.2804-?_3432+?del | OF | 8870 | |
| 3 | 2.5 | DelEX45-48 | c.6439-?_7098+?del | IF | 93323 | |
| 1 | 0.83 | DelEX46-49 | c.6615-?_7200+?del | OF | 95509 | |
| 2 | 1.67 | DelEX49-52 | c.7099-?_7660+?del | OF | 107011 | |
| 1 | 0.83 | DelEX50-53 | c.7201-?_7872+?del | IF | 140708 | |
| 5 exons (n = 12) | 2 | 1.67 | DelEX03-07 | c.94-?_649+?del | OF | 40327 |
| 1 | 0.83 | DelEX13-17 | c.1483-?_2168+?del | OF | 50717 | |
| 1 | 0.83 | DelEX17-21 | c.1993-?_2803+?del | OF | 60415 | |
| 3 | 2.5 | DelEX46-50 | c.6615-?_7309+?del | OF | 102252 | |
| 3 | 2.5 | DelEX48-52 | c.6913-?_7660+?del | OF | 145742 | |
| 1 | 0.83 | DelEX50-54 | c.7201-?_8027+?del | OF | 162093 | |
| 1 | 0.83 | DelEX51-55 | c.7310-?_8217+?del | OF | 146519 | |
| 6 exons (n = 13) | 7 | 5.83 | DelEX45-50 | c.6439-?_7309+?del | OF | 148539 |
| 1 | 0.83 | DelEX46-51 | c.6615-?_7542+?del | OF | 158627 | |
| 1 | 0.83 | DelEX47-52 | c.6763-?_7660+?del | OF | 200114 | |
| 4 | 3.33 | DelEX49-54 | c.7099-?_8027+?del | OF | 178832 | |
| 7 exons (n = 2) | 2 | 1.67 | DelEX46-52 | c.6615-?_7660+?del | OF | 202596 |
| 8 exons (n = 5) | 4 | 3.33 | DelEX45-52 | c.6439-?_7660+?del | OF | 238883 |
| 1 | 0.83 | DelEX46-53 | c.6615-?_7872+?del | OF | 252852 | |
| 10 exons (n = 6) | 3 | 2.5 | DelEX45-54 | c.6439-?_8027+?del | OF | 310524 |
| 3 | 2.5 | DelEX46-55 | c.6615-?_8217+?del | OF | 304554 | |
| 11 exons (n = 3) | 3 | 2.5 | DelEX45-55 | c.6439-?_8217+?del | IF | 340841 |
| 12 exons (n = 1) | 1 | 0.83 | DelEX31-42 | c.4234-?_6117+?del | IF | 80099 |
| 16 exons (n = 1) | 1 | 0.83 | DelEX8-23 | c.650-?_3162+?del | OF | 230795 |
| 20 exons (n = 1) | 1 | 0.83 | DelEX11-30 | c.1150-?_4233+?del | IF | 232561 |
| 27 exons (n = 1) | 1 | 0.83 | DelEX3-29 | c.832-?_3162+?del | IF | 411579 |
| 30 exons (n = 1) | 1 | 0.83 | DelEX10-39 | c.961-?_5586+?del | IF | 299209 |
| 35 exons (n = 1) | 1 | 0.83 | DelEX10-44 | c.961-?_6438+?del | IF | 428236 |
| 37 exons (n = 1) | 1 | 0.83 | DelEx8-44 | c.650-?_6438+?del | OF | 482377 |
| 39 exons (n = 1) | 1 | 0.83 | DelEX3-41 | c.94-?_5922+?del | IF | 507720 |
| 41 exons (n = 1) | 1 | 0.83 | DelEX3-43 | c.94-?_6290+?del | OF | 562291 |
| 42 exons (n = 2) | 2 | 1.67 | DelEX3-44 | c.94-?_6438+?del | IF | 632904 |
| Dup1 exons | 1 | 0.83 | DupEX45 | c.6439?_6614+?dup | OF | 175 |
| Dup3 exons | 1 | 0.83 | DupEX48-50 | c.6913?_7309+?dup | OF | 55398 |
| Dup5 exons | 1 | 0.83 | DupEX3-7 | c.94-?_649+?dup | OF | 40327 |
| Dup11 exons | 1 | 0.83 | DupEX64-74 | ? | OF | 53678 |
| Dup14 exons | 1 | 0.83 | DupEX3-16 | c.94-?_1992+?dup | IF | 284118 |
| Dup21 exons | 1 | 0.83 | DupEX54-74 | c.7873-?_10553+?dup | OF | 488701 |
| Dup27 exons | 1 | 0.83 | DupEX8-34 | c.650-?_4845+?dup | OF | 318783 |
| Dup29 exons | 1 | 0.83 | DupEX13-41 | c.1483-?_5922+?dup | IF | 253776 |
| Dup37 exons | 1 | 0.83 | DupEX8-44 | c.650-?_6438+?dup | OF | 482377 |
| Dup41 exons | 1 | 0.83 | DupEX3-43 | c.94-?_6290+?dup | OF | 562291 |
Δ: data were obtained through online search from [26].
?: the actual breakpoint is unknown.
*: DNA sequencing analysis determined that this single exon deletion is due to a single base pair deletion (Fig. 2).
IF/OF: in frame or out-of-frame.