Table 1 The mutation spectrum of DMD patients in 52 families
Family number | Exon ID | Base change | Effect | Mutation type | Carrier status of mother | Status |
|---|---|---|---|---|---|---|
1 | Exon66 | c.9568C > T | p.Arg3190* | Nonsense | Yes | Reported |
2 | Exon47 | c.6804_6807delACAA | p.Lys2268Asnfs*2 | Small deletions | Yes | Reported |
3 | Intron65 | c.9564-427 T > G | Splicing | No | Reported | |
4 | Exon22 | c.2929C > T | p.Gln977* | Nonsense | Yes | Reported |
5 | Exon7 | c.583C > T | p.Arg195* | Nonsense | Yes | Reported |
6 | Exon41 | c.5899C > T | p.Arg1967* | Nonsense | Yes | Reported |
7 | Exon40 | c.5591_5592insT | p.Leu1864phefs*24 | Small insertions | Yes | Reported |
8 | Exon40 | c.5697delA | p.Lys1899Asnfs | Small deletions | Yes | Reported |
9 | Exon16 | c.1978_1979delAA | p.K660Efs*59 | Small deletions | Yes | Reported |
10 | Exon14 | c.1652G > A | p.W551* | Nonsense | Yes | Reported |
11 | Exon14 | c.1615C > T | p.Arg539* | Nonsense | Yes | Reported |
12 | Intron45 | c.6615-2A > G | Splicing | Yes | Reported | |
13 | Exon6 | c.412A > T | p.Lys138* | Nonsense | Yes | Novel |
14 | Exon56 | c.8299G > T | p.E2767* | Nonsense | Yes | Reported |
15 | Exon62 | c.9204_9207delCAAA | p.Asn3068Lysfs | Small deletions | Yes | Reported |
16 | Exon23 | c.2962delT | p.Ser988Leufs*16 | Small deletions | Yes | Novel |
17 | Exon75 | c.10705A > T | p.Lys3569* | Nonsense | Yes | Novel |
18 | Exon47 | c.6850dupA | p.Ser2284Lysfs*7 | Small insertions | Yes | Novel |
19 | Exon36 | c.5139dupA | p.E1714Rfs*5 | Small insertions | Yes | Novel |
20 | Exon43 | c.6201_6203delGCCinsCCCA | p.Val2069Cysfs*14 | Small deletions and insertions | Yes | Novel |
21 | Exon8–17 | Dup | Yes | Reported | ||
22 | Exon12–29 | Del | Yes | Reported | ||
23 | Exon48–50 | Del | Yes | Reported | ||
24 | Exon47–50 | Del | No | Reported | ||
25 | Exon49–52 | Del | Yes | Reported | ||
26 | Exon49–50 | Del | Yes | Reported | ||
27 | Exon46–52 | Del | Yes | Reported | ||
28 | Exon45–47 | Del | Yes | Reported | ||
29 | Exon46–48 | Del | Yes | Reported | ||
30 | Exon1–44 | Del | Yes | Reported | ||
31 | Exon46–52 | Del | Yes | Reported | ||
32 | Exon1–60 | Del | Yes | Reported | ||
33 | Exon47–50 | Del | Yes | Reported | ||
34 | Exon49–52 | Del | Yes | Reported | ||
35 | Exon45 | Del | Yes | Reported | ||
36 | Exon51–54 | Del | No | Reported | ||
37 | Exon51–54 | Del | No | Reported | ||
38 | Exon10–11 | Del | Yes | Reported | ||
39 | Exon18–41 | Del | Yes | Reported | ||
40 | Exon17 | Del | Yes | Reported | ||
41 | Exon51–55 | Del | No | Reported | ||
42 | Exon45–50 | Del | Yes | Reported | ||
43 | Exon48–50 | Del | Yes | Reported | ||
44 | Exon50 | Del | No | Reported | ||
45 | Exon45–50 | Del | No | Reported | ||
46 | Exon45 | Del | No | Reported | ||
47 | Exon50 | Del | Yes | Reported | ||
48 | Exon45–52 | Del | No | Reported | ||
49 | Exon31–44 | Del | Yes | Reported | ||
50 | Exon49–51 | Del | Yes | Reported | ||
51 | Exon43–44 | Del | Yes | Reported | ||
52 | Exon45–50 | Del | Yes | Reported |