Genetic Profile of the Dystrophin Gene Reveals New Mutations in Colombian Patients Affected with Muscular Dystrophinopathy

Figures & data

Table 1 Frequency of Mutations and Molecular Consequence

	Mutation Type	n (%)	Consequence
			Inframe n (%)	Outframe n (%)
Large Mutations 50 (72.4%)	Large deletions^a	40 (58%)	7 (17.5%)	31 (77.5%)
Small mutations 8 (11.6%)	Large Duplications	10 (14.5%)	4 (40.0%)	6 (60.0%)
Point Mutations 11 (15.9%)	Nonsense	8 (11.6%)	NA	NA
	Splice Site	3 (4.3%)	NA	NA
	Missense	0 (0%)	NA	NA
TOTAL: 69

Notes: ^aTwo cases of large deletions involved the first methionine and the consequence was not determined.

Abbreviation: NA, not applied.

Table 2 Description of New Mutations in Dystrophin Gene

Type of Mutation	Consequence	Exon	DNA Mutation	Protein
Nonsense	Premature stop codon	34	c.4804G>T	p.Gly1602*
Small deletion	Outframe	24	c.3184_3199del	p.Lys1062Leufs*5
Small deletion	Outframe	23	c.3003del	p.Thr1002Leufs*2
Large deletion	Inframe	Exon 73	c.10329-?_10394+?del	p.Arg3443_Ile3465del^a
Large deletion	Inframe	Exons 21–44	c.2623-?_c.6438+?del	p.Asp875_Glu2120del^a
Small deletion	Outframe	36	c.5086del	p.Ile1696Phefs*25
Small deletion	Outframe	59	c.8873delG	p.Gly2958Aspfs*31

Notes: ^aProtein determined only with the exons deleted. *Stop codon.

Figure 1 Mutational frequency by exons in the analyzed population.

Table 3 Patients Who Expect to Benefit from Specific-Mutations Treatment

Type of Mutation	Consequence	Exons	DNA Mutation	Protein	Exon Skipping	Drug
Large deletion	Outframe	49 to 52	c.7099_7660del	p.Glu2367Leufs*22	53	Golodirsen
Large deletion	Outframe	45 to 52	c.6439_7660del	p.Glu2147Leufs*22	53	Golodirsen
Large deletion	Outframe	52	c.7543_7660del	p.Ala2515Leufs*22	53	Golodirsen
Large deletion	Outframe	48 to 50	c.6913_7309del	p.Val2305Leufs*9	51	Eteplirsen
Large deletion	Outframe	50	c.7201_7309del	p.Arg2401Leufs*9	51	Eteplirsen
Nonsense	Premature codon stop	14	c.1663C>T	p.Gln555*	NA	Ataluren
Nonsense	Premature codon stop	19	c.2299G>T	p.Glu767	NA	Ataluren
Nonsense	Premature codon stop	19	c.2365G>T	p.Glu789*	NA	Ataluren
Nonsense	Premature codon stop	39	c.5561C>T	p.Gln1785*	NA	Ataluren
Nonsense	Premature codon stop	43	c.6238C>T	p.Gln2080*	NA	Ataluren
Nonsense	Premature codon stop	34	c.4804G>T	p.Gly1602*	NA	Ataluren
Nonsense	Premature codon stop	51	c.7437G>A	p.Trp2479*	NA	Ataluren
Nonsense	Premature codon stop	19	c.2299G>T	p.Glu767*	NA	Ataluren

Note: *Stop codon.