TABLE 1.
Age of onset and Wilcoxon Rank Sums test results for number of nonsense/frameshift variant analysis. (A) Sample size, median, and quartile age of onset information for each clinical manifestation for different numbers of nonsense/frameshift variants. (B) Wilcoxon Rank Sums test P- values and Bonferonni adjusted p-values for pairwise comparisons of nonsense/frameshift variant numbers. NSFS0: zero nonsense/frameshift variants. NSFS1: one nonsense/frameshift variant. NSFS2: two nonsense/frameshift variants.
| Manifestation | Number of NSFS variants | Sample size (n) | Median | Lower quartile | Upper quartile |
| A | |||||
| Diabetes Mellitus | NSFS0 | 109 | 8 | 5 | 11 |
| Diabetes Mellitus | NSFS1 | 87 | 7 | 4.35 | 9 |
| Diabetes Mellitus | NSFS2 | 129 | 5 | 4 | 6.8 |
| Optic Atrophy | NSFS0 | 97 | 11 | 8 | 19 |
| Optic Atrophy | NSFS1 | 87 | 12 | 9 | 16 |
| Optic Atrophy | NSFS2 | 123 | 10 | 7.45 | 12 |
| Diabetes Insipidus | NSFS0 | 46 | 14 | 10 | 18.0825 |
| Diabetes Insipidus | NSFS1 | 38 | 12 | 10 | 15.75 |
| Diabetes Insipidus | NSFS2 | 65 | 12 | 10 | 15 |
| Hearing Loss | NSFS0 | 59 | 12 | 8 | 17.15 |
| Hearing Loss | NSFS1 | 48 | 14 | 9 | 18 |
| Hearing Loss | NSFS2 | 88 | 14 | 10 | 19.25 |
| Manifestation | Comparison | p-value | Adjusted p-value |
|---|---|---|---|
| B | |||
| Diabetes Mellitus | NSFS2-NSFS0 | 2.14E-09 | 2.57E-08 |
| Diabetes Mellitus | NSFS1-NSFS0 | 5.63E-02 | 6.76E-01 |
| Diabetes Mellitus | NSFS2-NSFS1 | 5.07E-05 | 6.09E-04 |
| Optic Atrophy | NSFS2-NSFS0 | 4.06E-03 | 4.87E-02 |
| Optic Atrophy | NSFS1-NSFS0 | 9.43E-01 | 1.00E+00 |
| Optic Atrophy | NSFS2-NSFS1 | 6.42E-04 | 7.71E-03 |
| Diabetes Insipidus | NSFS2-NSFS0 | 1.34E-01 | 1.00E+00 |
| Diabetes Insipidus | NSFS1-NSFS0 | 1.45E-01 | 1.00E+00 |
| Diabetes Insipidus | NSFS2-NSFS1 | 8.30E-01 | 1.00E+00 |
| Hearing Loss | NSFS2-NSFS0 | 2.71E-01 | 1.00E+00 |
| Hearing Loss | NSFS1-NSFS0 | 5.48E-01 | 1.00E+00 |
| Hearing Loss | NSFS2-NSFS1 | 5.40E-01 | 1.00E+00 |