Table 1.
Summary of paediatric index cases with a succinate dehydrogenase gene subunit (SDHx) mutation reported in literature (data based on references5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52)
| SDHx subunit gene | |
| SDHB | 77 (73.3%) |
| SDHC | 3 (2.9%) |
| SDHD | 25 (23.8%) |
| Variant type | |
| NA | 12 |
| Nonsense | 20 (21.6%) |
| Missense | 28 (30.1%) |
| Splice site | 13 (13.9%) |
| Frameshift | 26 (27.9%) |
| Copy number variation | 6 (6.4%) |
| Tumour type | |
| PGL | 65 (61.9%) |
| PCC | 29 (27.6%) |
| Both | 10 (9.5%) |
| Not known | 1 (1.0%) |
| Non‐PPGL | 4 |
| Multifocal disease | |
| Present | 36 (34.3%) |
| Absent | 69 (65.7%) |
| Functional status | |
| NA | 32 |
| Functioning | 63 (86.3%) |
| Nonfunctioning | 10 (13.7%) |
| Malignant disease | |
| Present | 26 (24.8%) |
| Absent | 79 (75.2%) |
NA, not available; PCC, phaeochromocytoma; PGL, paraganglioma; PPGL, phaeochromocytoma and paraganglioma.