Clinical and molecular data of patients analysed. SDHB and SDHC mutation analysis was performed in 22 consecutive, previously unselected patients with phaeochromocytoma and/or paraganglioma, aged 11 to 68 years, with or without a family history and from unrelated families who had tested negative for germline mutations in VHL, RET, and SDHD genes. Genomic DNA was extracted from the patients’ blood samples following standard methods. Informed consent was obtained from all patients
| Patient ID | Age at onset/sex | Paraganglioma | Phaeochromocytoma | Nucleotide change | Amino acid change | Frequency (%) |
|---|---|---|---|---|---|---|
| *Patients with a family history. | ||||||
| †Not found in control population. | ||||||
| 1 | 62/M | – | Unilateral | – | – | |
| 2 | 68/M | – | Unilateral | IVS2-35A/G | – | 7.2 |
| 3 | 36/F | – | Unilateral | – | – | |
| 4 | 34/F | – | Unilateral | IVS2-35A/G | – | 7.2 |
| 5 | 62/F | – | Unilateral | – | – | |
| 6 | 22/M | – | Bilateral | IVS2-33G/A | – | 3.3 |
| 7 | 36/F | – | Bilateral | – | – | |
| 8 | 51/F | – | Unilateral | IVS2-33G/A | – | 3.3 |
| 9 | 38/F | – | Bilateral | GCC→GCA† | A6A | – |
| 10 | 42/F | – | Unilateral | – | – | |
| 11 | 11/M | – | Unilateral | – | – | |
| 12 | 42/F | – | Unilateral | – | – | |
| 13 | 49/M | – | Bilateral | – | – | |
| 14 | 40/M | – | Unilateral | IVS2-33G/A | – | 3.3 |
| 15 | 37/M | – | Bilateral | – | – | |
| 16 | 14/F* | – | Unilateral | – | – | |
| 17 | 48/M | – | Bilateral | IVS4+35ins† | – | – |
| 18 | 22/F | Para-aortic | – | – | – | |
| 19 | 30/M | Abdominal | – | – | – | |
| 20 | 36/F | Head | – | IVS2-35A/G | 7.2 | |
| IVS2-33G/A | 3.3 | |||||
| CTC→CTT† | L7L | – | ||||
| 21 | 22/F | Para-aortic | Unilateral | IVS2-33G/A | – | 3.3 |
| 22 | 32/M* | Para-aortic and carotid body | Unilateral | CGA→TGA | R27X | |