Table 1.
Clinical characteristics and CDC73 mutational analysis results in the family
| Patients/ age at diagnosis | Parathyroid tumor | Associated diseases | Mutations | Polymorphisms |
|---|---|---|---|---|
| Index case/35 | Carcinoma | Jaw ossifying fibroma; uterine fibroid | Heterozygous deletion ex1 c.128-IVS1 +1 delG | Heterozygous IVS12 -86 C/T (rs41302543) |
| Father/81 | - | - | Heterozygous deletion ex1 c.128-IVS1 +1 delG | - |
| Mother/73 | - | - | - | Heterozygous IVS2 +28 del TCTA (rs80356645); IVS12 -86 C/T (rs41302543) |
| Brother/46 | Carcinoma | - | Heterozygous deletion ex1 c.128-IVS1 +1 delG | Heterozygous IVS2 +28 del TCTA (rs80356645) |
| Daughter/20 | - | - | - | Heterozygous IVS12 -86 C/T (rs41302543) |
| Nephew/24 | Double adenoma | - | Heterozygous deletion: ex1 c.128-IVS1 +1 delG. | Heterozygous IVS2 +28 C/T (rs4466634) |