Table 1.
Description of study subjects with recurrent HM.
| ID | Ethnicity | Consanguinity | Family history | Obstetric history | Molecular testing | ||
|---|---|---|---|---|---|---|---|
| NLRP7 | KHDC3L |
NLRPL
Duplication |
|||||
| 1 | Hispanic | Unknown | Unknown | RHM | + | + | − |
| 2 | Hispanic | Negative | Uterine cancer in maternal aunt | 3 CHM | + | + | − |
| 3 * | Hispanic | Yes | Yes, affected sister (4 CHM) and Maternal (3 CHM) |
3 CHM | + | − | − |
| 4* | Hispanic | Negative | Negative | 3 CHM, 1 live born |
+ | − | − |
| 14 | Est African | Yes | Yes, extensive history of CHM and NLRP7 duplication2 |
4 CHM | − | − | + |
| 16 | South East Asian | Unknown | Unknown | 1 CHM, 2 PHM, 1 SAB |
+ | − | − |
| 12 | East African | Yes | Negative | 2 CHM | + | − | + |
| 5 | Caucasian | Unknown | Unknown | RHM | + | + | − |
| 6 | Hispanic | Unknown | Unknown | 4 CHM | + | + | − |
Unknown: Information unavailable; Negative: None reported; RHM: Recurrent Hydatidiform Mole; CHM: Complete Hydatidiform Mole; (+): Sequencing done; (−): Sequencing not done.
*
Patients with the p.L750V change.
2
Kou et al, 2008; Study in which NLRP7 duplication was first described.