Table 3 Inheritance patterns of positive diagnostic and VUS cases
Inheritance patterns | Total | AD | AR | XL | ||
|---|---|---|---|---|---|---|
| Â | Â | De novo | Inherited from the parent | Â | De novo | Maternally inherited |
Positive diagnostic cases | 229 | 145 | 27 | 40 | 7 | 10 |
 Retrospective cohort | 98 | 70 | 5 | 12 | 5 | 6 |
 Significant history/family history | 11/12 | 0/1 | 5/5 | 4/4 | 0/0 | 2/2 |
 Prospective cohort | 131 | 75 | 22 | 28 | 2 | 4 |
 Significant history/family history | 37/42 | 1/5 | 15/15 | 17/18 | 0/0 | 4/4 |
VUS cases | 131 | 36 | 17 | 60 | 3 | 15 |
 Retrospective cohort | 48 | 26 | 0 | 16 | 2 | 4 |
 Significant history/family history | 0/1 | 0/0 | 0/0 | 0/0 | 0/0 | 0/1 |
 Prospective cohort | 83 | 10 | 17 | 44 | 1 | 11 |
 Significant history/family history | 13/14 | 0/0 | 4/5 | 8/8 | 0/0 | 1/1 |
Negative cases | 1246 | Â | Â | Â | Â | Â |
 Retrospective cohort | 411 |  |  |  |  |  |
 Significant history/family history | 12/13 |  |  |  |  |  |
 Prospective cohort | 835 |  |  |  |  |  |
 Significant history/family history | 27/52 |  |  |  |  |  |