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

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

Case no.	Phenotype	Multiplex PCR	MLPA del/dup	Exon(s) del/dup	Codons del/dup	Frame shift	Amino acid change^a
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	− 1^c 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

DMD Duchenne muscular dystrophy, IMD intermediate muscular dystrophy, BMD Becker muscular dystrophy, ND not determined
^aTheoretical amino acid change based on the database of the Leiden Muscular Dystrophy Pages (http://www.dmd.nl/)
^bPreviously described duplication at cDNA (c.6439_7660del) showing amino acid change (p.Glu2147LeufsX22) resulting in a termination transcript at codon 2168
^cPreviously described deletion at cDNA (c.32_265dup) showing amino acid change (p.Val89MetfsX15) resulting in a termination transcript at codon 103

ISSN: 1479-7364