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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.