Table 1 Recapitulation of the ten novel protein-truncating variants in NLRP7 with the ethnicities and reproductive histories of the patients
ID | Origin/ Ethnicity | Exon | Variants | Reproductive history and relevant medical information | ||
|---|---|---|---|---|---|---|
Family | Patient | cDNA | Predicted protein | |||
MoTu594 | 1505 | Turkey/Kurdish | 4 | c.[1557del];[1557del] | p.(His520Thrfs*46);(His520Thrfs*46) | 11 HM |
sister, 1506 | c.[1557del];[1557del] | p.(His520Thrfs*46);(His520Thrfs*46) | 13 HMs | |||
MoIn649 | 1566 | Indian | Before exon 1 & exon 6 | c.[−7026_−40 + 230del];[2227 G > T] | p.(?);(Glu743*) | SA, 5 HM |
MoTu650 | 1570 | Turkey | 4 | c.[418 C > T];[418 C > T] | p.(Gln140*);(Gln140*) | 7 HM, HM-GTN (I:5) |
sister, 1573 | c.[418 C > T];[418 C > T] | p.(Gln140*);(Gln140*) | 6 HM | |||
MoTu682 | 1615 | Turkey | 4 & 7 | c.[1516 G > T];[2327_2333del] | p.(Gly506*);(Glu776Glyfs*14) | HM, MC, MC/HM, MC/HM, 2 PHM |
sister (not tested) | not tested | RHM | ||||
MoEs675 | 1590 | Estonia | 4 & 5 | c.[1548_1566dup;1566_1567insAF15169.2:g.106_419];[2077 C > T] | p.(?);(Arg693Trp) | 3 HM, hysterectomy |
MoMx628 | 1546 | Mexican | 4 | c.[1168del];[1168del] | p.(Arg390Alafs*26);(Arg390Alafs*26) | CHM, PHM |
Other family members (not tested) | RHM | |||||
MoEg720 | 1693 | Egyptian | 4 | c.[394_395del];[394_395del] | p.(Leu132Glyfs*12);(Leu132Glyfs*12) | 3 CHM, SA |
MoIn688 | 1630 | Indian | 5 | c.[2002T > C];[2002T > C] | p.(Cys668Arg);(Cys668Arg) | 7 HM |
