Table 1.
Detailed characteristics of patients cohort.
| Case | Type | Sex | Age of onset | Age of diagnosis | Genes copy number | Parental relationship | ||||
|---|---|---|---|---|---|---|---|---|---|---|
| Exon7 SMN1 | Exon8 SMN1 | Exon7 SMN2 | Exon8 SMN2 | Exon5 NAIP | ||||||
| 1 | I | Female | 0M | 3M | 0 | 0 | 2 | 2 | 2 | First cousins |
| 2 | I | Female | 1M | 3M | 0 | 0 | 2 | 2 | 0 | Not related |
| 3 | I | Female | 2M | 12M | 0 | 0 | 2 | 2 | 0 | First cousins |
| 4 | I | Female | 2M | 12M | 0 | 0 | 2 | 2 | 0 | First cousin once removed |
| 5 | I | Female | 3M | 6M | 0 | 0 | 2 | 2 | 0 | Not related |
| 6 | I | Female | 3M | 12M | 0 | 0 | 2 | 2 | 0 | First cousins |
| 7 | I | Female | 3M | 18M | 0 | 0 | 2 | 2 | 0 | First cousins |
| 8 | I | Female | 4M | 4M | 0 | 0 | 2 | 2 | 0 | First cousins |
| 9 | I | Female | 4M | 16M | 0 | 0 | 2 | 2 | 0 | First cousins |
| 10 | I | Female | 4M | 2Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 11 | I | Female | 5M | 9M | 0 | 0 | 2 | 2 | 0 | First cousins |
| 12 | I | Female | 5M | 12M | 0 | 0 | 2 | 2 | 0 | Not related |
| 13 | I | Female | 6M | 6M | 0 | 0 | 2 | 2 | 0 | First cousins |
| 14 | I | Female | 6M | 8M | 0 | 0 | 2 | 2 | 0 | Not related |
| 15 | I | Male | 0M | 1M | 0 | 0 | 2 | 2 | 0 | First cousins |
| 16 | I | Male | 1M | 1M | 0 | 0 | 2 | 2 | 0 | First cousin once removed |
| 17 | I | Male | 1M | 2M | 0 | 0 | 2 | 2 | 0 | Not related |
| 18 | I | Male | 1M | 3M | 0 | 0 | 2 | 2 | 2 | First cousins |
| 19 | I | Male | 1M | 4M | 0 | 0 | 2 | 2 | 0 | Not related |
| 20 | I | Male | 1M | 6M | 0 | 0 | 2 | 2 | 0 | Not related |
| 21 | I | Male | 2M | 2M | 0 | 0 | 2 | 2 | 1 | First cousins |
| 22 | I | Male | 2M | 2M | 0 | 0 | 2 | 2 | 0 | Not related |
| 23 | I | Male | 2M | 4M | 0 | 0 | 2 | 2 | 0 | First cousin once removed |
| 24 | I | Male | 2M | 9M | 0 | 0 | 2 | 2 | 0 | First cousin once removed |
| 25 | I | Male | 3M | 4M | 0 | 0 | 2 | 2 | 0 | First cousin once removed |
| 26 | I | Male | 3M | 10M | 0 | 0 | 2 | 2 | 0 | Not related |
| 27 | I | Male | 3M | 10M | 0 | 0 | 2 | 2 | 0 | Not related |
| 28 | I | Male | 3M | 3Y | 0 | 0 | 2 | 2 | 1 | First cousins |
| 29 | I | Male | 4M | 4M | 0 | 0 | 2 | 2 | 0 | First cousins |
| 30 | I | Male | 4M | 6M | 0 | 0 | 3 | 3 | 0 | First cousins |
| 31 | I | Male | 4M | 9M | 0 | 0 | 2 | 2 | 0 | Not related |
| 32 | I | Male | 5M | 12M | 0 | 0 | 2 | 2 | 0 | First cousins |
| 33 | I | Male | 6M | 8M | 0 | 0 | 3 | 3 | 2 | First cousins |
| 34 | I | Male | 6M | 8M | 0 | 0 | 4 | 4 | 0 | First cousins |
| 35 | I | Male | 6M | 12M | 0 | 0 | 2 | 2 | 1 | First cousins |
| 36 | II | Female | 6M | 7Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 37 | II | Female | 6M | 12Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 38 | II | Female | 9M | 6Y | 0 | 1 | 3 | 2 | 1 | Not related |
| 39 | II | Female | 10M | 4Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 40 | II | Female | 11M | 2Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 41 | II | Female | 11M | 7Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 42 | II | Female | 11M | 12Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 43 | II | Female | 12M | 4Y | 0 | 0 | 2 | 2 | 0 | First cousins |
| 44 | II | Female | 12M | 5Y | 0 | 0 | 2 | 2 | 0 | First cousins |
| 45 | II | Female | 12M | 5Y | 0 | 1 | 3 | 2 | 1 | Not related |
| 46 | II | Female | 12M | 11Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 47 | II | Female | 12M | 12Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 48 | II | Female | 12M | 23Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 49 | II | Female | 12M | 4Y | 0 | 0 | 2 | 2 | 0 | First cousins |
| 50 | II | Female | 14M | 3Y | 0 | 0 | 3 | 3 | 1 | First cousins |
| 51 | II | Female | 14M | 9Y | 0 | 0 | 3 | 3 | 1 | First cousin once removed |
| 52 | II | Female | 14M | 10Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 53 | II | Female | 14M | 24Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 54 | II | Female | 15M | 2Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 55 | II | Female | 15M | 9Y | 0 | 1 | 4 | 4 | 2 | Second cousins |
| 56 | II | Female | 15M | 11Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 57 | II | Female | 15M | 17Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 58 | II | Female | 15M | 32Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 59 | II | Female | 17M | 18Y | 0 | 0 | 3 | 3 | 1 | First cousins |
| 60 | II | Male | 6M | 4Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 61 | II | Male | 7M | 9M | 0 | 0 | 2 | 2 | 0 | Not related |
| 62 | II | Male | 7M | 7Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 63 | II | Male | 7M | 12Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 64 | II | Male | 7M | 18Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 65 | II | Male | 8M | 3Y | 0 | 0 | 4 | 4 | 1 | Not related |
| 66 | II | Male | 8M | 15Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 67 | II | Male | 9M | 12M | 0 | 0 | 3 | 3 | 1 | Not related |
| 68 | II | Male | 10M | 9Y | 0 | 1 | 3 | 3 | 1 | Not related |
| 69 | II | Male | 10M | 13Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 70 | II | Male | 10M | 14Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 71 | II | Male | 12M | 12M | 0 | 0 | 3 | 3 | 1 | Not related |
| 72 | II | Male | 12M | 9Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 73 | II | Male | 12M | 10Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 74 | II | Male | 12M | 11Y | 0 | 0 | 4 | 4 | 1 | Not related |
| 75 | II | Male | 13M | 7Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 76 | II | Male | 14M | 29Y | 0 | 0 | 4 | 4 | 2 | Not related |
| 77 | II | Male | 15M | 2Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 78 | II | Male | 15M | 7Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 79 | II | Male | 16M | 13Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 80 | II | Male | 17M | 10Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 81 | II | Male | 18M | 4Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 82 | II | Male | 22M | 13Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 83 | III | Female | 20M | 16Y | 0 | 0 | 4 | 4 | 0 | Not related |
| 84 | III | Female | 2Y | 2Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 85 | III | Female | 2Y | 7Y | 0 | 0 | 2 | 2 | 1 | First cousins |
| 86 | III | Female | 2Y | 23Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 87 | III | Female | 2Y | 25Y | 0 | 0 | 4 | 4 | 0 | Not related |
| 88 | III | Female | 2Y | 27Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 89 | III | Female | 2Y | 31Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 90 | III | Female | 2Y | 49Y | 0 | 0 | 4 | 4 | 0 | First cousin once removed |
| 91 | III | Female | 3Y | 4Y | 0 | 0 | 4 | 4 | 0 | Not related |
| 92 | III | Female | 3Y | 5Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 93 | III | Female | 3Y | 9Y | 0 | 0 | 4 | 4 | 1 | Not related |
| 94 | III | Female | 3Y | 13Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 95 | III | Female | 3Y | 15Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 96 | III | Female | 3Y | 17Y | 0 | 0 | 4 | 4 | 0 | First cousins |
| 97 | III | Female | 3Y | 18Y | 0 | 0 | 4 | 4 | 2 | Not related |
| 98 | III | Female | 3Y | 19Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 99 | III | Female | 3Y | 27Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 100 | III | Female | 3Y | 31Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 101 | III | Female | 4Y | 4Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 102 | III | Female | 4Y | 10Y | 0 | 0 | 3 | 3 | 0 | First cousins |
| 103 | III | Female | 4Y | 26Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 104 | III | Female | 4Y | 27Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 105 | III | Female | 4Y | 32Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 106 | III | Female | 4Y | 32Y | 0 | 0 | 3 | 3 | 2 | Not related |
| 107 | III | Female | 5Y | 6Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 108 | III | Female | 5Y | 9Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 109 | III | Female | 6Y | 23Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 110 | III | Female | 7Y | 13Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 111 | III | Female | 7Y | 32Y | 0 | 0 | 4 | 4 | 2 | First cousin once removed |
| 112 | III | Female | 7Y | 38Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 113 | III | Female | 8Y | 22Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 114 | III | Female | 8Y | 24Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 115 | III | Female | 8Y | 39Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 116 | III | Female | 9Y | 16Y | 0 | 0 | 4 | 4 | 2 | Not related |
| 117 | III | Female | 9Y | 21Y | 0 | 0 | 4 | 4 | 2 | Not related |
| 118 | III | Female | 9Y | 36Y | 0 | 0 | 2 | 2 | 0 | First cousins |
| 119 | III | Female | 9Y | 36Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 120 | III | Female | 10Y | 23Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 121 | III | Female | 11Y | 28Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 122 | III | Female | 13Y | 41Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 123 | III | Female | 14Y | 34Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 124 | III | Female | 16Y | 41Y | 0 | 0 | 3 | 3 | 0 | First cousin once removed |
| 125 | III | Female | 17Y | 34Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 126 | III | Female | 21Y | 32Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 127 | III | Male | 18M | 38Y | 0 | 0 | 3 | 3 | 1 | First cousin once removed |
| 128 | III | Male | 18M | 39Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 129 | III | Male | 19M | 7Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 130 | III | Male | 2Y | 5Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 131 | III | Male | 2Y | 12Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 132 | III | Male | 2Y | 16Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 133 | III | Male | 2Y | 30Y | 0 | 1 | 4 | 3 | 2 | Not related |
| 134 | III | Male | 2Y | 30Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 135 | III | Male | 2Y | 33Y | 0 | 1 | 4 | 3 | 2 | Not related |
| 136 | III | Male | 2Y | 37Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 137 | III | Male | 2Y | 40Y | 0 | 1 | 4 | 3 | 2 | Not related |
| 138 | III | Male | 2Y | 43Y | 0 | 1 | 4 | 3 | 2 | Not related |
| 139 | III | Male | 3Y | 5Y | 0 | 0 | 3 | 4 | 2 | Not related |
| 140 | III | Male | 3Y | 7Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 141 | III | Male | 3Y | 8Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 142 | III | Male | 3Y | 10Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 143 | III | Male | 3Y | 14Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 144 | III | Male | 3Y | 14Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 145 | III | Male | 3Y | 15Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 146 | III | Male | 3Y | 17Y | 0 | 0 | 4 | 4 | 1 | First cousins |
| 147 | III | Male | 3Y | 24Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 148 | III | Male | 3Y | 26Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 149 | III | Male | 3Y | 32Y | 0 | 1 | 3 | 2 | 2 | Not related |
| 150 | III | Male | 3Y | 41Y | 0 | 0 | 4 | 4 | 2 | Not related |
| 151 | III | Male | 3Y | 43Y | 0 | 0 | 4 | 4 | 2 | First cousin once removed |
| 152 | III | Male | 4Y | 4Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 153 | III | Male | 4Y | 10Y | 0 | 0 | 4 | 4 | 2 | Not related |
| 154 | III | Male | 4Y | 29Y | 0 | 0 | 4 | 4 | 2 | Not related |
| 155 | III | Male | 5Y | 7Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 156 | III | Male | 5Y | 15Y | 0 | 0 | 2 | 2 | 0 | First cousins |
| 157 | III | Male | 6Y | 20Y | 0 | 0 | 3 | 3 | 2 | Second cousins |
| 158 | III | Male | 6Y | 30Y | 0 | 0 | 2 | 2 | 0 | Not related |
| 159 | III | Male | 7Y | 29Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 160 | III | Male | 7Y | 31Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 161 | III | Male | 7Y | 31Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 162 | III | Male | 11Y | 12Y | 0 | 0 | 3 | 3 | 2 | Not related |
| 163 | III | Male | 11Y | 33Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 164 | III | Male | 12Y | 22Y | 0 | 1 | 4 | 3 | 2 | Not related |
| 165 | III | Male | 12Y | 35Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 166 | III | Male | 12Y | 40Y | 0 | 0 | 3 | 3 | 0 | Not related |
| 167 | III | Male | 12Y | 50Y | 0 | 0 | 4 | 4 | 2 | Not related |
| 168 | III | Male | 13Y | 16Y | 0 | 0 | 3 | 3 | 2 | First cousins |
| 169 | III | Male | 13Y | 23Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 170 | III | Male | 13Y | 26Y | 0 | 0 | 4 | 4 | 0 | Not related |
| 171 | III | Male | 15y | 27Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 172 | III | Male | 15Y | 30Y | 0 | 0 | 4 | 4 | 0 | First cousin once removed |
| 173 | III | Male | 15Y | 43Y | 0 | 0 | 4 | 4 | 0 | First cousin once removed |
| 174 | III | Male | 17Y | 32Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 175 | III | Male | 18Y | 33Y | 0 | 0 | 4 | 4 | 2 | Not related |
| 176 | III | Male | 22Y | 29Y | 0 | 0 | 4 | 4 | 2 | First cousin once removed |
| 177 | IV | Female | 30Y | 41Y | 0 | 0 | 3 | 3 | 1 | Not related |
| 178 | IV | Male | 19Y | 29Y | 0 | 0 | 4 | 4 | 4 | First cousins |
| 179 | IV | Male | 20Y | 33Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 180 | IV | Male | 20Y | 40Y | 0 | 0 | 2 | 2 | 1 | Not related |
| 181 | IV | Male | 25Y | 45Y | 0 | 0 | 4 | 4 | 2 | Second cousins |
| 182 | IV | Male | 25Y | 49Y | 0 | 0 | 4 | 4 | 2 | Not related |
| 183 | IV | Male | 27Y | 42Y | 0 | 2 | 4 | 4 | 2 | Not related |
| 184 | IV | Male | 28Y | 40Y | 0 | 0 | 3 | 3 | 1 | First cousins |
| 185 | IV | Male | 28Y | 40Y | 0 | 0 | 4 | 4 | 2 | First cousins |
| 186 | IV | Male | 28Y | 40Y | 0 | 0 | 4 | 4 | 2 | First cousins |