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Table 2 New DMD mutational rearrangements identified in this study and their predicted reading frame shifts

From: Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community

Case no. Phenotype Multiplex PCR MLPA del/dup Exon(s) del/dup Codons del/dup Frame shift Amino acid changea
DS-2 DMD No del dup 2–4 and dup 18–19 233;
212 		77 2/3
70 2/3 		+ 2
+ 2 		p.Val89MetfsX15 b
p.Lys724Gly795fsX1
DS-14 DMD No del dup 8–30 3679 1226 1/3 + 1 p.Val218K1412fsX
DS-15 ND No del dup 8–30 3679 1226 1/3 + 1 p.Val218K1412fsX
DS-52 BMD No del dup 13 and dup 21–24 120
654 		40
218 		0
0 		p.Val495Val535dup
p.Asp875Lys1093dup
DS-50 BMD No del dup 17–24 1248 428 0 p.Ile665Lys1093dup
DS-53 IMD del 45–51 del 45–52 and dup 21–23 1222;
540 		407 1/3
180 		− 1c
0 		p.Glu2147LeufsX22 C
p.Asp875Asn1055dup
DS-25 IMD del 45–51 del 45–56 1952 650 2/3 − 2 p.Glu2147Ser2798
DS-22 DMD No del dup 56–58 and dup 62–64 451
198 		150 1/3
66 		+ 1
0 		p.Ser2798Lys2891fsX4
p.Ser3056Asp3122
  1. DMD Duchenne muscular dystrophy, IMD intermediate muscular dystrophy, BMD Becker muscular dystrophy, ND not determined
  2. aTheoretical amino acid change based on the database of the Leiden Muscular Dystrophy Pages (http://www.dmd.nl/)
  3. bPreviously described duplication at cDNA (c.6439_7660del) showing amino acid change (p.Glu2147LeufsX22) resulting in a termination transcript at codon 2168
  4. cPreviously described deletion at cDNA (c.32_265dup) showing amino acid change (p.Val89MetfsX15) resulting in a termination transcript at codon 103
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Human Genomics

ISSN: 1479-7364