Table 2.
Clinical features of patients carrying recurrent TMEM127 variants
| Variant | No. of occurrences | Age at onset, y (individual cases) | Age range, y | Age median, y | Sex | Presentation (n) | Biochemical presentation (n) | Exon | Type of mutation |
|---|---|---|---|---|---|---|---|---|---|
| c.190_191dup | 2 | 28, 56 | 28-56 | 42 | 2 F | PHEO (2) | Epi_NE (2) | 2 | T |
| c.208G > A | 2 | 50, 67 | 50-67 | 58 | 1 M, 1 F | RCC (1) | NApp (1) | 2 | NT |
| PHEO (1) | NA (1) | ||||||||
| c.248delT | 2 | 46, 54 | 46-54 | 50 | 2 M | PHEO (2) | Epi_NE (2) | 3 | T |
| c.268G > A | 2 | 32, 44 | 32-44 | 38 | 1 M, 1 F | PHEO (2) | Epi_NE (1), NA (1) | 3 | NT |
| c.419G > A | 2 | 22, 59 | 22-59 | 40.5 | 1 M, 1 F | PHEO (2) | NA (2) | 4 | NT |
| c.532_533insT | 2 | 25, 47 | 25-47 | 36 | 2 F | PHEO/RCC (1) | Epi (1) | 4 | T |
| PHEO (1) | NA (1) | ||||||||
| c.556G > C | 2 | 40, 49 | 40-49 | 44 | 2 F | PHEO (2) | EPI (1), NA (1) | 4 | NT |
| c.572delC | 2 | 26, 47 | 26-47 | 36 | 2 F | PHEO (2) | NA (2) | 4 | T |
| c.410-2A > C r.410_417del | 3 | 34, 37, 53 | 34-53 | 37 | 3 F | PHEO (3) | Epi (1), Epi_NE (1), NA (1) | 4 | T |
| c.74dup | 3 | 23, 41, 65 | 23-65 | 43 | 3 F | PHEO (3) | Epi (1) | 2 | T |
| Epi_NE (1), NA (1) | |||||||||
| c.202del | 3 | 32, 42, 56 | 32-56 | 43 | 2 F | PHEO (3) | Epi (1) | 2 | T |
| 1 M | NA (2) | ||||||||
| c.3G > A | 5 | 26, 35, 36, 52, 58 | 26-58 | 41 | 3 F | PHEO (5) | NE (1) | 2 | T |
| 2 M | NA (4) | ||||||||
| c.117_120delGTCT | 12 | 23, 26, 34, 40, 45, 48, 49, 52, 53, 62, 66, 84 | 23-84 | 48 | 10 F, 2 M | PHEO (12) | Epi (4), Epi_NE (2), NA (6) | 2 | T |
Abbreviations: Epi, epinephrine; F, female; M, male; NE, norepinephrine; NE_Epi, elevated norepinephrine and epinephrine; NA, not available; NApp, not applicable; PHEO, pheochromocytoma; RCC, renal cell carcinoma; TMEM127, transmembrane protein 127 gene.