Table 1 Germline VHL mutation and its phenotypes in 13 VHL families
Family | Sex | FHx | Exon | Nucleotide change | AA change | VHL type | CHB | RHB | RCC | PCC | PC | KC | Others | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | Proband | 1 | c.160_161delAT | p.Met54Glyfs*77 | 1 | 49 | 64 | 51, B | – | 64, M | – | – | |
M | Son | 1 | c.160_161delAT | p.Met54Glyfs*77 | 1 | – | – | – | – | 38, M | 38, B | + | – | |
F | Daughter | 1 | c.160_161delAT | p.Met54Glyfs*77 | 1 | 35 | – | 35 | – | 35, M | 35, B | – | ||
2 | M | – | 1 | c.208G > A | p.Glu70Lys | 1 | 25 | – | – | – | – | – | 14, 19 | |
3 | F | Proband | 1 | c.208G > A | p.Glu70Lys | 1 | – | 46, B | – | – | – | – | 14, 19 | |
M | Son | 1 | c.208G > A | p.Glu70Lys | – | – | – | – | – | – | – | 14, 19 | ||
4 | F | Proband | 1 | c.208G > A | p.Glu70Lys | 1 | – | 20, B | – | – | – | – | 14, 19 | |
F | Mother | NA | NA | NA | 1 | – | 20, B | – | – | – | – | |||
5 | M | Proband | 1 | c.227_229delTCT | p.Phe76del | 1 | 12 | – | 19, B | – | 13, M | – | 4 | |
M | Brother | NA | NA | NA | 1 | 19 | – | 18, B | – | 23, M | 19, B | |||
F | Sister | IVS1 | c.340 + 5G > C | – | – | – | – | – | – | – | + | |||
Father | NA | NA | NA | 2B | 27 | – | 44,B | 44 | 44,M | 44,B | ||||
6 | M | – | 1 | c.232A > G | p.Asn78Asp | 1 | 11 | – | – | – | 20, M | 20 | 15 | |
7 | M | – | 1 | c.233A > G | p.Asn78Ser | 1 | 14 | 14 | – | – | 14, M | 14, B | 4 | |
8 | M | – | IVS2 | c.464-1G > T | 1 | 38 | – | – | – | 38, M | 38 | 4 | ||
9 | M | Proband | 3 | c.499C > T | p.Arg167Trp | 2B | 47 | – | 47 | 47 | 47, M | 48 | 4 | |
F | Niece | 3 | c.499C > T | p.Arg167Trp | 1 | 14 | 26, B | 32 | – | 26, M | 32, B | 4 | ||
10 | F | – | 3 | c.500G > A | p.Arg167Gln | 1 | 59 | – | – | – | 59, M | 59, B | 4 | |
11 | M | Proband | 3 | c.500G > A | p.Arg167Gln | 1 | 36 | 41, B | 48, B | – | – | 48, B | 4 | |
M | Son | 3 | c.500G > A | p.Arg167Gln | 1 | 15 | – | – | – | – | – | 4 | ||
12 | F | Proband | 3 | c.592delC | p.Leu198Trpfs*4 | 2C | – | – | – | 24 | 21, M | – | 19 | |
F | Mother | 3 | c.592delC | p.Leu198Trpfs*4 | 2C | – | – | – | 27 | 48, M | – | + | 19 | |
13 | M | Proband | Exon2, 3 deletion | 1 | 32 | 44 | 44, B | – | 41 | – | 4 | |||
M | Son | Exon2, 3 deletion | – | – | – | – | – | – | – | 4 | ||||
M | Brother | Exon2, 3 deletion | 1 | 29 | 52 | 43, B | – | 43, M | 43, B | 4 | ||||
M | Nephew | NA | NA | NA | 1 | 22 | 18 | 29, B | – | 18, M | – |