Germline mutations in the VHL gene and related phenotypes in 82 patients from 34 unrelated Polish families fulfilling clinical VHL criteria
| Phenotype | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Family No | Mutation | Codon | Consequence | Description | rHAB | cHAB | RCC | Phaeo | No of affected |
| Mutations in cases 1–18 were detected by direct sequencing. | |||||||||
| Deletions in cases 19–23 (S1–S5) were detected by long PCR.28 | |||||||||
| Cases 24–34 were analysed by multiplex PCR. | |||||||||
| *In these cases the result of multiplex PCR were confirmed by QSA. | |||||||||
| Rp- mutation, which occurred in 1–3 families in other populations; Rp-Com,- reported in other populations as common VHL mutation (in four or more families), Novel, mutation not detected in other populations44; de novo?, patient diagnosed without a family history of VHL (parents not tested); de novo, germline de novo mutations confirmed by analysis of parents' DNA. | |||||||||
| Exon 1 | |||||||||
| 1 | 194C>T | 65 | S65L | 0 | 1 | 0 | 1 | ||
| 2 | 194C>T | 65 | S65L | Rp | 1 | 3 | 1 | 4 | |
| 3 | 194C>T | 65 | S65L | Rp | 10 | 12 | 3 | 12 | |
| 4 | 217delC | 73 | Frameshift | Novel de novo? | 1 | 1 | 0 | 1 | |
| 5 | 226_228delTTC | 76 | F76del | Rp-Com | 3 | 2 | 0 | 3 | |
| 6 | 226_228delTTC | 76 | F76del | Rp-Com | 1 | 1 | 0 | 1 | |
| 7 | 226_228delTTC | 76 | F76del | Rp-Com | 1 | 2 | 0 | 2 | |
| 8 | 233A>G | 78 | N78S | Rp-Com de novo | 1 | 1 | 0 | 1 | |
| 9 | 233A>G | 78 | N78S | Rp-Com | 1 | 0 | 1 | 2 | |
| 10 | 233A>T | 78 | N78I | Novel | 4 | 3 | 1 | 4 | |
| 11 | 263_265delGGCinsTT | 88 | Frameshift | Novel | 1 | 1 | 0 | 1 | |
| 12 | 333C>G | 111 | S111R | Rp de novo? | 1 | 1 | 0 | 1 | |
| Exon 2 | |||||||||
| 13 | 445delG | 149 | Frameshift | Novel | 3 | 2 | 1 | 3 | |
| Exon 3 | |||||||||
| 14 | 477_478insCA | 160 | Frameshift | Novel | 1 | 1 | 0 | 1 | |
| 15 | 481C>T | 161 | R161X | Rp | 1 | 1 | 1 | 1 | |
| 16 | 485G>A | 162 | C162Y | Rp | 4 | 4 | 0 | 5 | |
| 17 | 500G>A | 167 | R167Q | Rp-Com | 1 | 0 | 0 | 1 | 1 |
| 18 | 500G>A | 167 | R167Q | Rp-Com | 7 | 6 | 0 | 2 | 8 |
| Large deletions | |||||||||
| 19 / S 1 | Exon 1deletion | 1 | 1 | 2 | 2 | ||||
| 20 / S 3 | Exon 2 deletion | 1 | 4 | 0 | 4 | ||||
| 21 / S 2 | Exon 2 deletion | 3 | 3 | 1 | 3 | ||||
| 22 / S 4 | Exons 2, 3 deletion | De novo | 1 | 0 | 0 | 1 | |||
| 23 / S 5 | Exon 3 deletion | 1 | 1 | 1 | 1 | ||||
| 24 | Exon 3 deletion (8.5 kb abnormal band on QSA)* | 2 | 1 | 2 | 2 | ||||
| 25 | Exons 2, 3 deletion (11.5 kb abnormal band on QSA)* | 2 | 1 | 2 | 2 | ||||
| 26 | Complete deletion* | 0 | 2 | 0 | 2 | ||||
| 27 | Complete deletion* | 1 | 2 | 0 | 2 | ||||
| 28 | Complete deletion | 0 | 4 | 0 | 4 | ||||
| 29 | Complete deletion | 0 | 2 | 0 | 2 | ||||
| 30 | Complete deletion | De novo? | 1 | 1 | 0 | 1 | |||
| 31 | Not detected | 0 | 2 | 0 | 2 | ||||
| 32 | Not detected | 0 | 1 | 0 | 1 | ||||
| 33 | Not detected* | 1 | 1 | 0 | 1 | ||||
| 34 | Not detected* | 0 | 1 | 0 | 1 | ||||