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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
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