Table 1 Characteristics of the extreme DMD phenotype groups.
From: TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy
ID | Variant description | Exons Involved | Phenotype group | Age LoA (years) | Steroid treatment before LoA | Age at last visit (years) | Age of onset of cardiomyopathy (years) |
|---|---|---|---|---|---|---|---|
Extreme phenotype cohort: age of loss of ambulation | |||||||
ES0SN | NC_000023.11(NM_004006.2):c.(6912 + 1_6913 − 1)_(7309 + 1_7310 − 1)del | 48–50 | ELoA | 6 | no | na | na |
ES065 | NC_000023.11(NM_004006.2):c.2098C>T | 17 | ELoA | 7 | Yes | na | na |
ES005 | NC_000023.11(NM_004006.2):c.(649 + 1_650 − 1)_(1482 + 1_1483 − 1)del | 8–12 | ELoA | 7.5 | Yes | na | na |
ES074 | NC_000023.11(NM_004006.2):c.(960 + 1_961 − 1)_(1331 + 1_1332 + 1)del | 10–11 | ELoA | 8 | Yes | na | na |
ES067 | NC_000023.11(NM_004006.2):c.(6614 + 1_6615 − 1)_(7542 + 1_7543 − 1)del | 46–51 | ELoA | 8.5 | Yes | na | na |
ES028 | NC_000023.11(NM_004006.2):c.(6614 + 1_6615 − 1)_(7200 + 1_7201 − 1)del | 46–49 | LLoA | 12 | Yes | na | na |
ES050 | NC_000023.11(NM_004006.2):c.(6438 + 1_6439 − 1)_(6614 + 1_6615 − 1)del | 45 | LLoA | 12 | Yes | na | na |
ES075 | NC_000023.11(NM_004006.2):c.(7309 + 1_7310 − 1)_(7542 + 1_7543 − 1)del | 51 | LLoA | 12 | Not known | na | na |
ES045 | NC_000023.11(NM_004006.2):c.(264 + 1_265 − 1)_(649 + 1_650 − 1)del | 5–7 | LLoA | 15 | Yes | na | na |
ES0SW | NC_000023.11(NM_004006.2):c.(5922 + 1_5923 − 1)_(6290 + 1_6291 − 1)del | 42–43 | LLoA | Ambulant at 14 | Yes | na | na |
Extreme phenotype cohort: early cardiomyopathy/long survivor | |||||||
SS2 | NC_000023.11(NM_004006.2):c.1886C>G | 16 | LS | na | na | 32 | Not documented |
SS3 | NC_000023.11(NM_004006.2):c.6553_6553delT | 45 | LS | na | na | 30 | Not documented |
SS4 | NC_000023.11(NM_004006.2):c.(7309 + 1_7310 − 1)_(7542 + 1_7543 − 1)del | 51 | LS | na | na | 33 | Not documented |
SS6 | NC_000023.11(NM_004006.2):c.(6912 + 1_6913 − 1)_(7309 + 1_7310 − 1)del | 48–50 | LS | na | na | 38 | Mild ventricular dysfunction at 35 |
SS7 | NC_000023.11(NM_004006.2):c.(6438 + 1_6439 − 1)_(6762 + 1_6763 − 1)del | 45–46 | LS | na | na | 31 | Not documented |
SS9 | NC_000023.11(NM_004006.2):c.(7309 + 1_7310 − 1)_(7542 + 1_7543 − 1)del | 51 | LS | na | na | 28 | 22 |
SS11 | NC_000023.11(NM_004006.2):c.(93 + 1_94 − 1)_(649 + 1_650 − 1)dup | 3–7 | LS | na | na | 31 | Normal evaluation at 28 |
SS12 | NC_000023.11(NM_004006.2):c.(6614 + 1_6615 − 1)_(7309 + 1_7310 − 1)del | 46–50 | LS | na | na | 31 | Not documented |
SS13 | NC_000023.11(NM_004006.2):c.(6438 + 1_6439 − 1)_(6614 + 1_6615 − 1)del | 45 | LS | na | na | 31 | Mild ventricular dysfunction at 28 |
SS17 | NC_000023.11(NM_004006.2):c.10265dupC | 72 | LS | na | na | 39 | No cardiac impairment |
SS18 | NC_000023.11(NM_004006.2):c.(31 + 1_32 − 1)_(93 + 1_94 − 1)dup | 2 | LS | na | na | 32 | Not documented |
SS1 | NC_000023.11(NM_004006.2):c.(8217 + 1_8218 − 1)_(8547 + 1_8548 − 1)dup | 56–57 | ECM | na | na | na | 5 |
SS8 | NC_000023.11(NM_004006.2):c.(7098 + 1_7099 − 1)_(7309 + 1_7310 − 1)del | 49–50 | ECM | na | na | na | Cardiorespiratory arrest at 13 |
SS10 | NC_000023.11(NM_004006.2):c.(6290 + 1_6291 − 1)_(6912 + 1_6913 − 1)del | 44–47 | ECM | na | na | na | 11 |
SS14 | NC_000023.11(NM_004006.2):c.(6117 + 1_6118 − 1)_(7542 + 1_7543 − 1)del | 43–51 | ECM | na | na | na | 11 |
SS15 | NC_000023.11(NM_004006.2):c.(264 + 1_265 − 1)_(4071 + 1_4072 − 1)del | 5–29 | ECM | na | na | na | 11 |
SS16 | NC_000023.11(NM_004006.2):c.(264 + 1_265 − 1)_(2380 + 1_2381 − 1)dup | 5–19 | ECM | na | na | na | 8 |
