Table 2 Molecular, potential molecular, partial molecular and no molecular diagnosis cases of each group of diseases. Molecular diagnosis cases were used to establish the DR among each group and subgroup of disease. Data are ordered from highest to lowest according to the number of molecular diagnosis cases. Solved cases correspond to potential and molecular diagnosis cases.
From: Five years’ experience of the clinical exome sequencing in a Spanish single center
Molecular diagnosis | Potential molecular diagnosis | Partial molecular diagnosis | No molecular diagnosis | Total | |||||
|---|---|---|---|---|---|---|---|---|---|
N | % | N | % | N | % | N | % | N | |
Ophthalmological disorders | 821 | 43.12 | 162 | 8.51 | 176 | 9.24 | 745 | 39.13 | 1904 |
Retinal dystrophy | 680 | 47.49 | 132 | 9.22 | 159 | 11.10 | 461 | 32.19 | 1432 |
Optic Atrophy | 43 | 24.02 | 4 | 2.23 | 5 | 2.79 | 127 | 70.95 | 179 |
Ocular malformation | 76 | 34.55 | 20 | 9.09 | 12 | 5.45 | 112 | 50.91 | 220 |
Corneal dystrophy | 22 | 30.14 | 6 | 8.22 | 0.00 | 45 | 61.64 | 73 | |
Neurological disorders | 254 | 16.61 | 178 | 11.64 | 51 | 3.34 | 1046 | 68.41 | 1529 |
Parkinsonism | 8 | 11.43 | 5 | 7.14 | 4 | 5.71 | 53 | 75.71 | 70 |
Neuropathies/Paraparesia | 37 | 18.88 | 29 | 14.80 | 10 | 5.10 | 120 | 61.22 | 196 |
Neurology others | 12 | 20.69 | 2 | 3.45 | 0.00 | 44 | 75.86 | 58 | |
Myopathies | 34 | 18.89 | 19 | 10.56 | 5 | 2.78 | 122 | 67.78 | 180 |
Intellectual disability | 114 | 16.47 | 76 | 10.98 | 17 | 2.46 | 485 | 70.09 | 692 |
Epilepsy | 23 | 14.56 | 28 | 17.72 | 10 | 6.33 | 97 | 61.39 | 158 |
Dementia | 12 | 11.43 | 7 | 6.67 | 1 | 0.95 | 85 | 80.95 | 105 |
Ataxia | 14 | 20.00 | 12 | 17.14 | 4 | 5.71 | 40 | 57.14 | 70 |
Others diseases or Miscellanea group | 72 | 20.81 | 15 | 4.34 | 12 | 3.47 | 247 | 71.39 | 346 |
Cardiological disorders | 61 | 17.13 | 25 | 7.02 | 0.00 | 270 | 75.84 | 356 | |
Rasophaties | 7 | 20.59 | 0.00 | 0.00 | 27 | 79.41 | 34 | ||
Marfan syndrome | 5 | 13.51 | 0.00 | 0.00 | 32 | 86.49 | 37 | ||
Cardiology | 49 | 17.19 | 25 | 8.77 | 0.00 | 211 | 74.04 | 285 | |
Endocrinological disorders | 45 | 16.54 | 16 | 5.88 | 6 | 2.21 | 205 | 75.37 | 272 |
Kidney disorders | 38 | 25.33 | 12 | 8.00 | 11 | 7.33 | 89 | 59.33 | 150 |
Nephrology others | 34 | 27.42 | 11 | 8.87 | 10 | 8.06 | 69 | 55.65 | 124 |
Alport syndrome | 4 | 15.38 | 1 | 3.85 | 1 | 3.85 | 20 | 76.92 | 26 |
Hearing impairment | 34 | 25.56 | 29 | 21.80 | 10 | 7.52 | 60 | 45.11 | 133 |
Familial hypercholesterolemia | 27 | 38.57 | 4 | 5.71 | 1 | 1.43 | 38 | 54.29 | 70 |
Skeletal dysplasia | 27 | 20.15 | 13 | 9.70 | 5 | 3.73 | 89 | 66.42 | 134 |
Cystic Fibrosis | 12 | 15.00 | 6 | 7.50 | 8 | 10.00 | 54 | 67.50 | 80 |
Total | 1391 | 27.97 | 460 | 9.25 | 280 | 5.63 | 2843 | 57.16 | 4974 |
