Table 1 Genetic variants identified through screening of POI cohorts
From: Searching for the ‘X’ factor: investigating the genetics of primary ovarian insufficiency
Gene (location on human X chromosome) | Expression in human fetal ovary | Mutation | State | Rate in women with POI (study population size) | Rate in controls (study population size) | PA or SA (age at menarche) | Reference |
|---|---|---|---|---|---|---|---|
POF1B (Xq21.1) | No | c.439–2 A > G | Het. | 1.2% (1/86) | N/A | Not reported | [165] |
c. 932 A > C: p.K311T | Hom | Case report (1) | N/A | SA (21) | [166] | ||
c.986G > A: p.R329Q | Het. | Case report (1) | N/A | SA (23) | [4] | ||
Hom. | Case report (5) | 0% (0/92) | PA | [79] | |||
Case report (1) | N/A | PA | [167] | ||||
COL4A6 (Xq22.3) | Unknown | c.2371G > A: p.G791S | Het. | 2% (1/50) | N/A | SA (not reported) | [100] |
NXF5 (Xq22.1) | Unknown | c.958 C > T:p.R320 | Het. | 2% (1/50) | N/A | SA (not reported) | [100] |
c.959G > A:p.R320Q | Hom. | 2% (1/50) | N/A | PA (NA) | [100] | ||
c.145 A > G:p.I49V | Hom. | 2% (1/50) | N/A | PA (NA) | [100] | ||
XPNPEP2 (Xq26.1) | Unknown | c.644 C > T:p.T215I | Het. | 2% (1/50) | N/A | SA (not reported) | [100] |
PGRMC1 (Xq24) | Yes | c.494 A > G:p.H165R | Het. | 1.49% (1 of 67) | N/A | Not reported | [94] |
c.533 C > T:p.T178I | Het. | 14.2% (2 of 14) | N/A | SA (17, 18) | |||
DACH2 (Xq21.2) | Unknown | c.C271T: p.P36L | Het. | 1.17% (3/257) | 0.54% (6/1110) | SA (17, 37, 39) | [76] |
c.G274T: p.R37L | Het. | 0.39% (1/257) | 0% (0/1110) | SA (35) | [76] | ||
c.G340A: p.G59D | Het. | 0.39% (1/257) | 0.09% (1/1110) | SA (24) | [76] | ||
c.G1399A: p.R412K | Het. | 0.39% (1/257) | 0.09% (1/1110) | SA (22) | [76] | ||
DIAPH2 (Xq21.33) | Yes | c.733- 2_733-1del | Het. | 2.78% (1/36) | N/A | SA (37) | [88] |