Table 1 Summary of the distribution of genetic mutations in the von Hippel–Lindau (VHL) gene between East Asian and Western patient cohorts
From: Clinical and molecular characteristics of East Asian patients with von Hippel–Lindau syndrome
Type of VHL mutation | East Asian patients | Western patients [11] (%) |
|---|---|---|
Missense | 40.9% (63 of 154) | 52.1 |
Exon 1 | 16.8% (26 of 154) | 21.4 |
Exon 2 | 5.8% (9 of 154) | 8.8 |
Exon 3 | 18.2% (28 of 154) | 21.9 |
Frameshift | 8.4% (13 of 154) | 13.3 |
Exon 1 | 3.9% (6 of 154) | 5.8 |
Exon 2 | 2.6% (4 of 154) | 3.2 |
Exon 3 | 2.0% (3 of 154) | 4.3 |
Nonsense | 11.7% (18 of 154) | 11.3 |
Exon 1 | 6.5% (10 of 154) | 4.6 |
Exon 2 | 0% (0 of 154) | 1.3 |
Exon 3 | 5.2% (8 of 154) | 5.4 |
Large/complete deletion | 32.5% (50 of 154) | 10.8 |
Exon 1 | 5.2% (8 of 154) | 1.1 |
Exon 2 | 3.2% (5 of 154) | 0.4 |
Exon 3 | 5.8% (9 of 154) | 0.3 |
Exons 1 and 2 | 0.6% (1 of 154) | 0.3 |
Exons 1 and 3 | 0 (0 of 154) | 0.2 |
Exons 2 and 3 | 1.3% (2 of 154) | 0.4 |
Exons 1, 2 and 3 | 15.6% (24 of 154) | 0.4 |
Exon not identified | 0.6% (1 of 154) | 6.8 |
Complete del | 0% (0 of 154) | 0.9 |
Splice | 4.5% (7 of 154) | 6.8 |
Exon 1 | 2.6% (4 of 154) | 0.1 |
Exon 2 | 1.3% (2 of 154) | 1.4 |
Exon 3 | 0.6% (1 of 154) | 1.3 |
Location unknown | 0% | 4.0 |
In-frame deletion/insertion | 1.3% (2 of 154) | 5.6 |
Exon 1 | 1.3% (2 of 154) | 5.1 |
Exon 2 | 0% (0 of 154) | 0.2 |
Exon 3 | 0% (0 of 154) | 0.3 |