Table 1.
Clinical phenotype of patients with variants in SDHA in novel UK cohort
| Mutation | Sex | Age | Category | Single/multiple | Secretory | Malignant |
|---|---|---|---|---|---|---|
| c.91C>T (p.Arg31*) | M | 56 | HNPGL | Single | No | No |
| c.91C>T (p.Arg31*) | M | 33 | Abdominal PGL | Single | N/A | No |
| c.91C>T (p.Arg31*) | M | 45 | Abdominal PGL | Single | Yes | No |
| c.91C>T (p.Arg31*) | F | 15 | Adrenal PCC | Single | Yes | No |
| c.91C>T (p.Arg31*) | M | 35 | GIST | Single | No | Yes |
| c.133G>A (p.Ala45Thr) | M | 36 | Thoracic PGL | Single | No | No |
| c.136A>G (p.Lys46Glu) | F | 12 | Abdominal PGL | Single | Yes | No |
| c.923C>T (p.Thr308Met) | F | 43 | Thoracic PGL | Single | Yes | Yes |
| c.923C>T (p.Thr308Met) | M | 52 | HNPGL | Multiple | Yes | No |
| c.1273G>A (p.Val425Met) | M | 62 | PC and Paraspinal PGL. | Multiple | Yes | No |
| c.1338delA (p.His447Metfs*23) | F | 48 | HNPGL | Single | No | No |
| c.1468G>T (p.Glu490Ter) | M | 32 | GIST | Single | No | Yes |
| c.1753C>T (p.Arg585Trp) | F | 34 | PGL | Single | No | No |
| c.1765C>T (p.Arg589Trp) | F | 42 | GIST | Single | No | No |
| c.1909‐2A>G | F | 31 | GIST | Single | No | No |