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

Elhawary, Nasser A.; Jiffri, Essam H.; Jambi, Samira; Mufti, Ahmad H.; Dannoun, Anas; Kordi, Hassan; Khogeer, Asim; Jiffri, Osama H.; Elhawary, Abdelrahman N.; Tayeb, Mohammed T.

doi:10.1186/s40246-018-0152-8

Human Genomics

Table 1 Previously described large rearrangements identified in this study and their 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

Family no.	Phenotype	Multiplex PCR	MLPA del/dup	Exon(s) del/dup	Codons del/dup	Frame shift	Amino acid change^a	cDNA^a
DS-23	DMD	No del	Del 10–11	371	123 ^2/3	Stop at 323	p.His321PhefsX3	c.961_1331del
DS-1	DMD	Del 19	Del 18–20	454	151 ^1/3	− 1	p.Arg723Lys874	c.2169_2622del
DS-37	IMD	Del 44	Del 44	148	49 ^1/3	Stop at 2113	p.Arg2098AsnfsX16	c.6291_6438del
DS-34	ND	Del 44–48	Del 44–48	808	269 ^1/3	− 1	p.Arg2098Gln2366del	c.6291_7098del
DS-24	DMD	Del 45	Del 45	176	58 ^2/3	Stop at 2163	p.Glu2147AlafsX17	c.6439_6614del
DS-8	IMD	Del 45–50	Del 45–50	871	290 ^1/3	Stop at 2155	p.Glu2147LeufsX9	c.6439_7309del
DS-38	IMD	Del 45–52	Del 45–52	1222	407 ^1/3	Stop at 2168	p.Glu2147LeufsX22	c.6439_7660del
DS-29	DMD	Del 47–50	Del 47–50	547	182 ^1/3	Stop at 2263	p.Val2257LeufsX7	c.6763_7309del
DS-20	ND	Del 47–50	Del 47–50	547	182 ^1/3	Stop at 2263	p.Val2257LeufsX7	c.6763_7309del
DS-48	BMD	Del 48	Del 48	186	62	In-frame	p.Val2305Gln2366del	c.6913_7098del
DS-30	DMD	Del 50	Del 49–50	211	70 ^1/3	Stop at 2375	p.Glu2367LeufsX9	c.7099_7309del
DS-31	IMD	Del 50	Del 49–50	211	70 ^1/3	Stop at 2375	p.Glu2367LeufsX9	c.7099_7309del
DS-36	DMD	Del 50	Del 50	109	36 ^1/3	Stop at 2409	p.Arg2401LeufsX9	c.7201_7309del
DS-32	IMD	Del 50	Del 50	109	36 ^1/3	Stop at 2409	p.Arg2401LeufsX9	c.7201_7309del
DS-33	ND	Del 50	Del 50	109	36 ^1/3	Stop at 2409	p.Arg2401LeufsX9	c.7201_7309del
DS-35	ND	Del 50	Del 50	109	36 ^1/3	Stop at 2409	p.Arg2401LeufsX9	c.7201_7309del
DS-27	ND	Del 50–52	Del 50–52	460	153 ^1/3	Stop at 2422	p.Arg2401LeufsX22	c.7201_7660del
DS-12	DMD	Del 51	Del 51	233	77 ^2/3	Stop at 2469	p.Ser2437CysfsX33	c.7310_7542del
DS-18	DMD	No del	Del 55	190	63 ^1/3	Stop at 2700	p.Val2677ThrfsX24	c.8028_8217del
DS-11	ND	No del	Dup 50–51	343	114	In-frame	p.Arg2401Lys2514dup	c.7201-?_7542 +?dup

DMD Duchenne muscular dystrophy, IMD intermediate muscular dystrophy, BMD Becker muscular dystrophy, ND not determined
^aThese data are based on the Leiden Muscular Dystrophy Pages (http://www.dmd.nl/) and the UMD-DMD (http://www.umd.be/DMD/)

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ISSN: 1479-7364

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