MLPA-based genotype–phenotype analysis in 1053 Chinese patients with DMD/BMD

BMC Medical Genetics

Table 1 Sequencing results of 20 male probands with negative MLPA

No.	Phenotype	Family history	Exon/Intron	Sequencing results	Change of protein	Carrier status of mother
1	DMD	Unknown	Exo 2	c.70 T > C	p.Trp24Arg	Unknown
2	DMD	Unknown	Exo 2	c.77A > G	p.Asn26Ser	Yes
3	DMD	No	Exo 6	c.436C > T	p.Gln146X	No
4	DMD	Unknown	Int 16	c.1993-37 T > G/	Unknown	Unknown
4	DMD	Unknown	Int 49	c.7200 + 53C > G	Unknown	Unknown
5	DMD	Unknown	Exo 19	c.2302C > T	p.Arg768X	Yes
6	DMD	Unknown	Int 20	c.2623-34C > T/	Unknown	Yes
6	DMD	Unknown	Int 66	c.9649 + 15 T > C	Unknown	Yes
7	DMD	Unknown	Int 21	c.2804-1 G > T	Unknown	No
8	DMD	Unknown	Exo 29	c.4057 G > T	p.Glu1353X	Unknown
9	DMD	Unknown	Exo 32	c.4375C > T	p.Arg1459X	Yes
10	DMD	Yes	Int 32	c.4518 + 5 G > A	Unknown	Yes
11	DMD	Unknown	Exo 34	c.4729C > T	p.Arg1577X	Unknown
12	DMD	Unknown	Exo 37	c.5234 G > A	p.Arg1745His	Unknown
13	DMD	Unknown	Exo 44	c.6373C > T	p.Gln2125X	Yes
14	DMD	Unknown	Exo 48	c.7096C > A	p.Gln2366Lys	Unknown
15	DMD	No	Exo 52	c.7657C > T	p.Arg2553X	Yes
16	DMD	Yes	Int 61	c.9164-3_9164-1delCAG	Unknown	Yes
17	DMD	Unknown	Int 66	c.9649 + 15 T > C	Unknown	Yes
18	DMD	Unknown	Exo 68	c.9934A > C	p.Lys3312Thr	Yes
19	DMD	Unknown	Exo 70	c.10141C > T	p.Arg3381X	Unknown
20	DMD	Unknown	Int 70	c.10223 + 1 G > A	Unknown	Yes

ISSN: 1471-2350