Table 1 NLRP7 mutations, reproductive outcomes and ethnic origin of women with FRHM
FamilyAffected patientsMutationsOutcomes
Homozygous mutations*Heterozygous mutationsPredicted protein changesReproductiveClinicalEthnic originReference
1Probandc.183delCp.T61TfsX74 CHM; 1 SACaucasian
2Probandc.939_952dup14p.Y318CfsX73 CHMPTDCaucasian
3Probandc.939_952dup14p.Y318CfsX73 CHM; 1 SAPTDCaucasian
42 sistersc.1193T→Gp.L398RS1: 2 CHM; 1 PHMPTDAsian9
S2: 3 CHM; 1 SA
5Probandc.1708G→Tp.E570X3 CHMAsian5
62 sistersc.1951C→Tp.P651SS1: 6 CHM; 2 SAPTDCaucasian11
S2: 3 CHM; 1 SA
7Probandc.2077C→Tp.R693W4 HM; 3 SACaucasian17
8Probandc.2077C→Tp.R693W7 HMCaucasian
92 sistersc.2078G→Cp.R693P4 CHMAsian
5 CHM
10Probandc.2078G→Cc.2738A→Gp.R693P/p.N913S2 CHM; 1 SAAsian
112 sistersc.2146C→Gp.P716A1 CHMPTDCaucasian12
1 CHM; 1 PHM; 1 SB; 6 SA
12Probandc.2147delCp.P716LfsX214 CHM2 PTDCaucasian
13Probandc.2161C→Tp.R721W6 CHMAsian
14Probandc.2282G→Ap.C761Y3 CHM2 PTDChinese
15Probandc.337_338insGp.E113GfsX73 CHMCaucasian
& c.2078G→Cp.R693P
162 sistersc.939_952dup14p.Y318CfsX7S1: 3 CHM; 2 SACaucasian
& c.2030delTp,L677PfsX6S2: 1 CHM
172 sisters†c.1294C→T p.R432XS1: 5 CHM; 7 SA2 PTDChinese16
& c.2078G→Ap.R693QS2: 4 CHMPTD
182 sistersS1: 3 CHM; 1 ENDPTDChinese16
S2: 2 CHM; 2 SA; 1 EPPTD
19Proband5 CHMAsian
20Proband4 CHMPTDAsian
  • CHM, complete hydatidiform mole; END, early neonatal death; EP, ectopic pregnancy; HM, undefined hydatidiform mole; PHM, partial hydatidiform mole; PTD, persistent trophoblastic disease; SA, spontaneous abortion; SB, stillbirth.

  • *Variants in coding DNA and protein are annotated with reference to GenBank accession numbers (NM_206828.2) and (NP_996611.2) respectively.

  • †Proband only available for screening.