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Table 1 Mutation Detected in Dystrophin Gene

From: Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations

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
  1. Δ: data were obtained through online search from [26].
  2. ?: the actual breakpoint is unknown.
  3. *: DNA sequencing analysis determined that this single exon deletion is due to a single base pair deletion (Fig. 2).
  4. IF/OF: in frame or out-of-frame.