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.

Wang et al. Behavioral and Brain Functions 2008 4:20   doi:10.1186/1744-9081-4-20