Table 2 Molecular characterization, X-inactivation pattern and transcriptional analysis results in symptomatic and asymptomatic carriers
Carrier ID | Classification | DMD mutation(a) | X-inactivation pattern | RNA profiling | Transcripts representation (wt:mutated) | Total transcript level | WT transcript level |
|---|---|---|---|---|---|---|---|
C1 | Symptomatic | t(X;9)(p21.1;p22.1) | 100:0 (blood) 100:0 (sk.m.) | Biallelic transcript (biallelic pol. 3’-UTR) | nd | nd | nd |
C2 | Symptomatic | Dup exons 3–7 c.94-?_649 + ?dup (out of frame) | 60:40 | WT + DUP 3–7 transcripts | nd | nd | nd |
C3 | Symptomatic | Dup exons 5–7 c.265-?_649 + ?dup (out of frame) | 75:25 | WT + DUP 5–7 transcripts | 70:30 | nd | nd |
C4 | Symptomatic | Del exons 8–9 c.650-?_960 + ?del (out of frame) | 86:14 | WT + DEL 8–9 transcripts | 50:50 | 17% (ex 12) 12% (ex 55) | 9% (ex 12) 6% (ex 55) |
C5 | Symptomatic | Del exon 44 c.6291-?_6438 + ?del (out of frame) | Non Informative | WT + DEL 44 transcripts | 88:12 | 109% (ex 12) 31% (ex 55) | 96% (ex 12) 27% (ex 55) |
C6 | Symptomatic | Del exon 54 c.7873-?_8027 + ?del (out of frame) | 54:46 | WT + DEL 54 transcripts | 89:11 | 46% (ex 12) 78% (ex 55) | 41% (ex 12) 69% (ex 55) |
C7 | Symptomatic | Del exons 8–48 c.650-?_7098 + ?del (out of frame) | 34:66 | WT + DEL 8–48 transcripts | nd | nd | nd |
C8 | Asymptomatic | Dup 1P-7 and dup 13–42 chrX:g. (33.068.711_33.068.771) _(32.684.693_32.684.750)dup; g.(32.523.766_32.523.826)_(32.228.415_32.228.475)dup | 73:27 (blood) 97:3 (sk.m.) | Biallelic transcript (biallelic ex 21 SNP) | nd | nd | nd |
C9 | Asymptomatic | Dup exon 2 c.32-?_93 + ?dup (out of frame) | 86:14 | WT + DUP 2 transcripts | 74:26 | 36% (ex 12) 36% (ex 55) | 27% (ex 12) 27% (ex 55) |
C10 | Asymptomatic | Dup exons 3–44 c.94-?_6438 + ?dup (in frame) | 85:15 | DUP 3–44 transcript (junction PCR) | nd | nd | nd |
C11 | Asymptomatic | Del exons 48–52 c.6913-?_7660 + ?del (out of frame) | 23:77 | WT + DEL 48–52 transcripts | 52:48 | 33% (ex 12) 48% (ex 55) | 17% (ex 12) 25% (ex 55) |
C12 | Asymptomatic | Del exons 46–51 c.6615-?_7542 + ?del (out of frame) | 65:35 | WT + DEL 46–51 transcripts | 49:51 | 118% (ex 12) 128% (ex 55) | 58% (ex 12) 63% (ex 55) |
C13 | Asymptomatic | Del exons 49–50 c.7099-?_7309 + ?del (out of frame) | 44:56 | WT + DEL 49–50 transcripts | 87:13 | 43% (ex 12) 34% (ex 55) | 38% (ex 12) 29% (ex 55) |
C14 | Asymptomatic | Del exon 52 c.7543-?_7660 + ?del (out of frame) | 87:13 | WT + DEL 52 transcripts | 65:35 | 48% (ex 12) 92% (ex 55) | 31% (ex 12) 60% (ex 55) |
C15 | Asymptomatic | Del exons 50–79 c.7201-?_(*2691_?)del | 81:19 | Biallelic transcript (biallelic ex 37 SNP) | nd | nd | nd |
C16 | Asymptomatic | Del exons 44–79 chrX:g.(28.671.682_28.671.742)_(32.170.481_32.170.541)del | 53:47 | Biallelic transcript (biallelic ex 21 SNP; monoallelic ex 37 SNP) | nd | nd | nd |
C17 | Asymptomatic | c.1615C > T (ex 14) p.R539X | 42:58 | WT + 1615C > T transcripts | nd | nd | nd |
C18 | Asymptomatic | c.10033C > T (ex 69) p.R3345X | 70:30 | WT + 10033C > T transcripts | nd | nd | nd |