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

Sk.m.: skeletal muscle; WT: wild-type; MUT: mutated; nd: not determined.

a The DNA mutation numbering is based on cDNA sequence with a “c.” symbol before the number with +1 corresponding to the A of the ATG translation initiation codon in the respective reference sequence (GenBank:M18533); in carriers C8 and C16 nucleotides are numbered according to March 2006 Human Reference Sequence, NCBI Build 36.1, hg18.

Brioschi et al.

Brioschi et al. BMC Medical Genetics 2012 13:73   doi:10.1186/1471-2350-13-73

Open Data