Table 3.
Genotype comparison of CFEOM1 patients in different studies
| Sources | Country | Family | Mosaicism proportiona | KIF21A mutation site | Mutation rateb |
|---|---|---|---|---|---|
| [16] | USA | 1 | 1 out of 1 | c.1056C > G (p.D352E) | 1 out of 1 |
| [22] | Iran | 1 | 0 | c.2860C > T (p.R954W) | 1 out of 1 |
| [23] | India | 1 | 0 | c.2860C > T (p.R954W) | 1 out of 1 |
| [24] | China | 1 | 0 | c.2860C > T (p.R954W) | 1 out of 1 |
| [25] | China | 1 | 0 | c.2860C > T (p.R954W) | 1 out of 1 |
| [26] | China | 1 | 1 out of 1 | c.2860C > T (p.R954W) | 1 out of 1 |
| [27] | China | 1 | 1 out of 1 | c.2860C > T (p.R954W) | 1 out of 1 |
| [28] | China | 1 | 0 | c.2861G > A (p.R954Q) | 1 out of 1 |
| [29] | Saudi Arabia | 1 | 1 out of 1 | c.2861G > T (p.R954L) | 1 out of 1 |
| [15] | China | 2 | 1 out of 2 | c.2861G > A (p.R954Q) | 1 out of 2 |
| c.3000_3002delTGA (p.D1001del) | 1 out of 2 | ||||
| [30] | China | 3 | 1 out of 3 | c.2860C > T (p.R954W) | 2 out of 2 |
| [31] | China | 3 | 0 | c.2860C > T (p.R954W) | 3 out of 3 |
| [32] | Sweden, Turkey, France, Iran | 4 | 1 out of 4 | c.2860C > T (p.R954W) | 4 out of 4 |
| [17] | China | 4 | 0 | c.84C > G (p.C28W) | 1 out of 4 |
| c.2860C > T (p.R954W) | 2 out of 4 | ||||
| Not found | 1 out of 4 | ||||
| [33] | China | 16 | 44% | c.2860C > T (p.R954W) | 75% |
| c.2861G > A (p.R954Q) | 13% | ||||
| Not found | 13% | ||||
| [34] | USA, Spain, Turkey, Iran | 16 | 63% | c.1067 T > C (p.M356T) | 6% |
| c.2830G > C (p.E944Q) | 6% | ||||
| c.2860C > T (p.R954W) | 31% | ||||
| c.2861G > A (p.R954Q) | 13% | ||||
| c.2861G > T (p.R954L) | 6% | ||||
| c.3022G > C (p.A1008P) | 6% | ||||
| Not found | 31% | ||||
| [6] |
USA, Canada, Spain, Turkey, Chile, Germany, Italy, Egypt, Netherlands, Venezuela, Australia |
45 | 29% | c.1067 T > C (p.M356T) | 4% |
| c.2839A > G (p.M947V) | 2% | ||||
| c.2840 T > C (p.M947T) | 2% | ||||
| c.2840 T > G (p.M947R) | 2% | ||||
| c.2860C > T (p.R954W) | 71% | ||||
| c.2861G > A (p.R954Q) | 13% | ||||
| c.3029 T > C (p.I1010T) | 4% | ||||
| This study | China | 16 | 50% | c.2860C > T (p.R954W) | 50% |
| c.2861G > A (p.R954Q) | 13% | ||||
| c.2861G > T (p.R954L) | 13% | ||||
| Not found | 25% | ||||
| Overall | ─ | 118 | 38.1% | c.84C > G (p.C28W) | 0.8% |
| c.1056C > G (p.D352E) | 0.8% | ||||
| c.1067 T > C (p.M356T) | 2.5% | ||||
| c.2830G > C (p.E944Q) | 0.8% | ||||
| c.2839A > G (p.M947V) | 0.8% | ||||
| c.2840 T > C (p.M947T) | 0.8% | ||||
| c.2840 T > G (p.M947R) | 0.8% | ||||
| c.2860C > T (p.R954W) | 63.6% | ||||
| c.2861G > A (p.R954Q) | 11.9% | ||||
| c.2861G > T (p.R954L) | 3.4% | ||||
| c.3022G > C (p.A1008P) | 0.8% | ||||
| c.3029 T > C (p.I1010T) | 1.7% | ||||
| c.3000_3002delTGA (p.D1001del) | 0.8% | ||||
| Not found | 10.2% |
aThe proportion of presumed mosaicism family in the study
bThe rate of family carry that mutation in the study