Table 2.
Genetic profile of the patients
| Patient | Mutation | Nucleotide change | Protein change | Family Hx of PHEO/PGL |
|---|---|---|---|---|
| 1 | SDHB | Exon 1 deletion | Exon 1 deletion | − |
| 2 | SDHB | c.343C>T | p.Arg115X | − |
| 3 | – | – | – | − |
| 4 | SDHB | Promoter and exon 1 deletion | Promoter and exon 1 deletion | + |
| 5 | SDHB | c.418G>T | p.Val140Phe | − |
| 6 | – | – | – | − |
| 7 | SDHB | c.380T>G | p.Ile127Ser | + |
| 8 | SDHB | c.380T>G | p.Ile127Ser | − |
| 9 | SDHB | c.136C>T | p.Arg46X | − |
| 10 | – | – | – | − |
| 11 | – | – | – | − |
| 12 | SDHB | c.286+1G>A | Splice site mutation | − |
| 13 | SDHB | c.418G>T | p.Val140Phe | − |
| 14 | – | – | – | − |
| 15 | SDHB | c.445–447delCAinsGGTATCT | p.Gln149LeufsX159 | − |
| 16 | SDHB | c.540G>A | p.Leu180Leu (mutation affects transcript splicing) | + |
| 17 | SDHB | c.343C>T | p.Arg115X | + |
| 18 | – | – | – | − |
| 19 | – | – | – | − |
| 20 | VHL | Partial deletion | Partial deletion | − |
| 21 | VHL | c.337C>T | p.Arg113X | + |
| 22 | VHL | c.371C>T | p.Thr124Ile | + |
| 23 | – | – | – | − |
| 24 | – | – | – | − |
| 25 | SDHB | c.553G>T | p.Glu185X | − |
| 26 | – | – | – | − |
| 27 | SDHB | c.587G>A | p.Cys196Tyr | − |
NA = not available.