Table 2 49 variants detected in dystrophinopathy cases

1

Exo 70

c.10171C > T

p.R3391*

Hemi

Mother

Het

No abnormal phenotype

Barbieri et al. [37] Eur J Hum Genet 4,183

2

Exo 10

c.1075G > T

p.E359*

Hemi

De novo

Tong et al. [21] Front Neurol 11:e572006

3

Exo 76

c.10916_10917del

p.S3639Yfs*3

Hemi

Mother

Novel

4

Int 11

c.1332-9A > G

splicing

Hemi

Mother

Normal

No abnormal phenotype

Flanigan et al. [38] Am J Hum Genet 72,931

5

Exo 14

c.1684C > T

p.Q562*

Hemi

Mother

Takeshima et al. [17] J Hum Genet 55,379

6

Exo 15

c.1790 T > A

p.L597*

Hemi

Mother

Novel

7

Exo 15

c.1793C > G

p.S598*

Hemi

De novo

Flanigan et al. [39] Hum Mutat 30,1657

8

Exo 16

c.1842del

p.K614Nfs*18

Hemi

Mother

Novel

9

Int 3

c.186 + 2 T > C

splicing

Hemi

Mother

Hemi

Termination

Flanigan et al. [39] Hum Mutat 30,1657

10

Int 16

c.1992 + 1G > C

splicing

Hemi

Mother

Neri et al. [40] Front Genet 11,131

11

Exo 17

c.2111del

p.P704Hfs*25

Hemi

Mother

Santos et al. [19] J Hum Genet 59,454

12

Exo 17

c.2128A > T

p.K710*

Hemi

Mother

Mendell et al. [41] Neurology 57,645

13

Exo 20

c.2461G > T

p.E821*

Hemi

Mother

Clinvar

14

Exo 20

c.2484 T > A

p.Y828*

Hemi

Mother

Guo et al. [22] J Hum Genet 60,435

15

Exo 23

c.3151C > T

p.R1051*

Hemi

Mother

Bennett et al. [42] BMC Genet 2,17

16

Int 25

c.3432 + 1G > T

splicing

Hemi

Mother

Hofstra et al. [43] Hum Mutat 23,57

17

Exo 28

c.3856G > T

p.E1286*

Hemi

Mother

Het

No abnormal phenotype

Clinvar

18

Exo 30

c.4108C > T

p.Q1370*

Hemi

Mother

Tuffery-Giraud et al. [44] Neuromuscul Disord 14,650

19

Exo 34

c.4841del

p.G1614Efs*15

Hemi

Mother

Tuffery-Giraud et al. [44] Neuromuscul Disord 14,650

20

Exo 35

c.5015del

p.N1672Ifs*49

Hemi

Mother

Novel

21

Exo 35

c.5791_5792insCA

p.R1931Tfs*53

Hemi

De novo

Novel

22

Exo 44

c.6292C > T

p.R2098*

Hemi

Mother

Normal

No abnormal phenotype

Roberts et al. [45] Hum Mutat 4,1

23

Int 47

c.6913-4037A > C

Splicing

HEMI

De novo

Gurvich et al. [46] Ann Neurol 63,81

24

Exo 51

c.7339C > T

p.Q2447*

Hemi

De novo

Dolinsky et al. [47] Neuromuscul Disord 12,845

25

Exo 52

c.7657C > T

p.R2553*

Hemi

Mother

Lesca et al. [48] Rev Neurol 159,775

26

Int 52

c.7661-1G > A

Splicing

Hemi

Mother

Ma [34] Orphanet J Rare Dis 13,109

27

Exo 54

c.7885_7886del

p.D2629Pfs*13

Hemi

Mother

Xu et al. [49] J Clin Lab Anal 32:e22445

28,29

Exo 58

c.8608C > T

p.R2870*

Hemi

Mother

Mendell et al. [41] Neurology 57,645

30

Exo 59

c.8713C > T

p.R2905*

Hemi

Mother

Prior et al. [50] Am J Hum Genet 57,22

31

Exo 61

c.9148C > T

p.Q3050*

Hemi

De novo

Tuffery-Giraud et al. [44] Neuromuscul Disord 14,650

32

Exo 66

c.9568C > T

p.R3190*

Hemi

Mother

Normal

No abnormal phenotype

Tuffery et al. [51] Hum Genet 102,334

33

Exo 38–50

Duplication

Het

Uncertain

Novel

34,42

Exo 44

Deletion

Hemi

Mother

Chen et al. [52] PLoS One 9:e108038

35,38,45

Exo 45

Deletion

Hemi

Uncertain

Chen et al. [52] PLoS One 9:e108038

36

Exo 55–60

Deletion

Hemi

Uncertain

Chen et al. [53] Electrophoresis 34,2503

37

Exo 52

Deletion

Hemi

Mother

Hrdlicka et al. [54] Folia Biol (Praha) 47,81

39

Exo 22–44

Duplication

Hemi

Mother

Normal

No abnormal phenotype

Zimowski et al. [55] Med Wieku Rozwoj 13,140

40

Exo 45–52

Deletion

Hemi

Mother

Moizard et al. [56] Am J Med Genet 80,32

41

Exo 46–55

Deletion

Hemi

Mother

Moizard et al. [56] Am J Med Genet 80,32

43

Exo 48–52

Duplication

Hemi

Uncertain

Moizard et al. [56] Am J Med Genet 80,32

44

Exo 46–48

Deletion

Hemi

Uncertain

Sinha et al. [57] Clin Genet 50,327

46

Exo 3–4

Duplication

Hemi

Mother

Hu et al. [58] Am J Hum Genet 46,682

47

Exo 42–43

Deletion

Hemi

Mother

Janssen et al. [59] Neurogenetics 6,29

48

Exo 45–55

Deletion

Hemi

Uncertain

Lalic et al. [60] Eur J Hum Genet 13,1231

49

Exo 45–48

Deletion

Hemi

Mother

Normal

No abnormal phenotype

Beggs et al. [61] Am J Hum Genet 49,54