Table 1 Demographics of total cohort with SDHx pathogenic variants.
HCI | U of M | Penn | Total | Percent | |
|---|---|---|---|---|---|
Cohort | |||||
Total subjects (n) | 100 | 95 | 68 | 263 | |
Families (n) | 25 | 48 | 51 | 124 | |
Families with >1 member (n) | 17 | 38 | 34 | 89 | |
Sex | |||||
Females (n) | 48 | 54 | 44 | 146 | 56% |
Males (n) | 52 | 41 | 24 | 117 | 44% |
Age at end of study | |||||
Mean age (years) | 38 | 43 | 47 | 42 | |
Median age (years) | 39 | 42 | 47 | 41 | |
Age min (years) | 8 | 6 | 20 | 6 | |
Age max (years) | 77 | 90 | 76 | 90 | |
Adults and children | |||||
Age <18 (n) | 17 | 9 | 0 | 26 | 10% |
Age ≥18 (n) | 83 | 86 | 68 | 237 | 90% |
Germline genetics | |||||
SDHA (n) | 1 | 4 | 4 | 9 | 3% |
SDHB (n) | 72 | 62 | 54 | 188 | 71% |
SDHC (n) | 12 | 13 | 3 | 28 | 11% |
SDHD (n) | 15 | 13 | 7 | 35 | 13% |
SDHAF2 (n) | 0 | 3 | 0 | 3 | 1% |
