Table 2:
Genotypes and Phenotypes of DMD/BMD Patients
| Figure Key | Subtype | intron | HGVS_Genomic_GRCh37 (NC_000023.10) | cDNA (NM_004006.2) | RNA | Protein | Frame as predicted by RNA sequencing | Clinical Diagnosis | Presenting Symptoms (age at onset) | Ambulation status (age) | Cardiac Status |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Fig. 1A | 1a | 7 | chrX:32756908T>C | c.650–39498A>G | r.649_650i ns650–39575_650–39499 | p.Asp217Alafs2 | OUT | DMD | Abnormal gait, frequent falls, difficulty climbing stairs, thigh pain (2y) | ambulant (4y) | Normal (4y) |
| Fig. 1B | 1a | 10 | chrX:32662831G>A | c.1149+250 C>T | r.1149_1150ins1149+108_1149+248 | p. Gly384LeufsTer3 | OUT | BMD | Trouble with stairs (7y) | ambulant (23y) | Normal (22y) |
| Fig. 1C | 1a | 17 | chrX:32549132C>A | c.2169–12883G>T | r.2168_2169i ns2168+14099_2168+14142 | p.Leu723Ter | OUT | BMD | 3y | ambulant (32y) | Normal (32y) |
| Fig. 1D | 1a | 18 | chrX:32535101C>A | c.2292+1024 G>T | r.2292_2293i ns2292+862_2292+1022 | p.Ala765AspfsTer23 | OUT | DMD | Calf hypertrophy (3y) | wheelchair fulltime (12y) | Normal (13y) |
| Fig. 1E | 1a | 25 | chrX:32477825C>A | c.3432+3731 G>T | r.3432_3433i ns3432+3664_3432+3729 | p.Val1145IlefsTer18 | OUT | BMD | Difficulty carrying buckets of water up stairs (56y) | ambulant (68y) | HTN, h/o MI, no CM |
| Fig. 1F | 1a | 47 | chrX:31899369T>C | c. 6913–5879A>G | r.6912_6913i ns6913–6013_6913–5880 | p.Val2305Ter | OUT | BMD | pain in legs (3.5y) | ambulant (8y) | Normal |
| Fig. 1G | 1a | 62 | chrX:31279780T>C | c.9225–647A>G | r.9224_9225ins9225–713_9225–647 | p.Asn3075LysfsTer2 | OUT | HyperCK/ BMD | motor & cognitive del ays (1y) | ambulant (21y) | EF 54%, partial RBBB |
| Fig. 1H | 1a | 38 | chrX:32366456T>C | c.5448+67A>G | r.[5448_5449i ns5448+1_5448+67] | p.Met1816_Asn1817i nsTer 4 | OUT | DMD | Gross motor delay (10m) | wheelchair fulltime (12y) | EF 42% (20y) |
| Fig. 1I | 1a | 26 | chrX:32187215C>A | c.3603+820G>T | r.3603_3604i ns3603+839_3603+923 | p.Arg1202AspfsTer16 | OUT | DMD | gross motor delay (18m) | wheelchair fulltime (9y) | Normal (11y) |
| Fig. 1J | 1a | 44 | chrX:32471959C>A | c.6438+47818G>T | r.6438_6439i ns6438+47837_6438+47929 | p.Lys2146ValfsTer1 | OUT | BMD | incidental finding of elevated AST | ambulant (16 yo) | Normal 16 yo, EF61% |
| Fig. 1K | 1b | 22 | chrX:32489372G>A | c.2949+909 C>T | r.[2949_2950ins2949+889_2949+1147]; [=] | p.Ala984ThrfsTer33 | OUT | HyperCK/ BMD | None | ambulant (25y) | Normal (20y) |
| Fig. 1L | 1c | 43 | chrX:32302570T>C | c.6290+3076 A>G | r.[6290_6291–67389_6291-?]; [=] | p.Thr3055SerfsTer1 | OUT | BMD | mild proximal weakness, calf hypertrophy, CK 10,000s | ambulant (7y) | NR |
| Fig. 1M | 1c | 61 | chrX:31364163C>T | c.9163+2510G>A | r.[9163_9164–22385_9164-?]; [=] | p.Gly2097GlyfsTer2 | OUT | HyperCK/ BMD | muscle pain after play (4y) | ambulant (8y) | Normal (7y) |
| Fig. 2A | 2 | 7 | chrX:32718293_32718326del | c.650–916_c.650–883del | r.649_650i ns650–944_650–818del650–916_650– 883 | p.Asp217GlyfsTer2 | OUT | DMD | motor delay (6m) | wheelchair fulltime (11.75y) | Abnl FS 24.6% |
| Fig. 2B | 2 | 45* | chrX:31986347_31986583del | c.6489_6614+111del | r.[6487_6613delins6613+110_6613+139]; [=] | p.Asp2163_Arg2205delins 10 (KLNSTINQQQ) | IN | BMD | difficulty climbing stairs (40y) | ambulant (70's) | Normal |
| Fig. 2C | 2 | 33* | g.32404494–32404495i ns[{10218);{A)] | c.4606_4607i ns10218+As | r.4606_4674delins95 | p.Glu1536GlyfsTer19 | OUT | DMD | Abnormal gait, difficulty climbing stairs (2y) | Wheelchair fulltime (9.9y) | Normal (16y) |
| Fig. 2D | 3 | 55 | - | c.8217_8218i ns[NR_1312 27.1:c.37–87] | r.8217_8218i ns[NR_131227.1:c.37–87] | p.Gl u2739_Asp2740i ns17 | IN | DMD | Gross motor delay (7y) | Wheelchair fulltime (9y) | Normal (12y) |
| Fig. 2E | 3 | 1 | g.(?_33112674)i ns[g.(13782326_?)] | - | - | - | OUT | DMD | lower limb weakness, abnormal gait, elevated CK (5y) | ambulant (9y) | Normal (9y) |
| Fig. 2F | 3 | 60 | g.8135000_31427000i nv | - | - | - | OUT | DMD | Gross motor delay (walked 21 months & cognitive (2y) | wheelchair fulltime (9y) | Normal (13y) |
NR = not reported; y = year