Table 1.
Mutations associated with infertility in women
| Gene | Phenotype | OMIM gene [OMIM infertility] |
|---|---|---|
| Bone morphogenetic protein 15 (BMP15) | Hypergonadotropic ovarian failure (POF4) | 300247 [300510] |
| Bone morphogenetic protein receptor 1B (BMPR1B) | Ovarian dysfunction, hypergonadotropic hypogonadism and acromesomelic chondrodysplasia | 603248 |
| Chromobox homolog 2, Drosophila polycomb class (CBX2; M33) | Autosomal 46,XY, male-to-female sex reversal (phenotypically perfect females) | 602770 (67) |
| Chromodomain helicase DNA-binding protein 7 (CHD7) | CHARGE syndrome and Kallmann syndrome (KAL5) | 608892 [612370] |
| Diaphanous homolog 2 (DIAPH2) | Hypergonadotropic, premature ovarian failure (POF2A) | 300108 [300511] |
| Fibroblast growth factor 8 (FGF8) | Normosmic hypogonadotropic hypogonadism and Kallmann syndrome (KAL6) | 600483 [612702] |
| Fibroblast growth factor receptor 1 (FGFR1) | Kallmann syndrome (KAL2) | 136350 [147950] |
| FSH receptor (FSHR) | Hypergonadotropic hypogonadism and ovarian hyperstimulation syndrome | 136435 |
| FSH β (FSHB) | Deficiency of FSH, primary amenorrhea and infertility | 136530 [229070] |
| Forkhead box L2 (FOXL2) | Isolated POF (POF3) associated with BPES type I; FOXL2 402C→G mutations associated with human granulosa cell tumors | 605597 [608996] |
| Fragile X mental retardation 1 (FMR1) | Premature ovarian failure (POF1) associated with premutations | 309550 [311360] |
| GnRH receptor (GNRHR) | Hypogonadotropic hypogonadism | 138850 |
| GnRH 1 (GNRH1) | Normosmic hypogonadotropic hypogonadism | 152760 (769, 770) |
| Kallmann syndrome 1 (KAL1) | Hypogonadotropic hypogonadism and anosmia, X-linked Kallmann syndrome (KAL1) | 308700 |
| KISS1 receptor (KISS1R; GPR54) | Hypogonadotropic hypogonadism | 604161 |
| LH β (LHB) | LHB G102S mutations associated with infertility | 152780 |
| LH/choriogonadotropin receptor (LHCGR) | Hypergonadotropic hypogonadism (LH resistance) | 152790 |
| Nuclear receptor subfamily 0, group B, member 1 (NROB1; DAX1) | X-linked congenital adrenal hypoplasia with hypogonadotropic hypogonadism; dosage-sensitive male-to-female sex reversal | 300473 [300200; 300018] |
| Nuclear receptor subfamily 5, group A, member 1 (NR5A1; SF1) | 46,XY male-to-female sex reversal and streak gonads and congenital lipoid adrenal hyperplasia; 46,XX gonadal dysgenesis and 46,XX primary ovarian insufficiency | 184757 (771) |
| Premature ovarian failure 1B (POF1B) | Hypergonadotropic, primary amenorrhea (POF2B) | 300603 [300604] |
| Prokineticin 2 (PROK2) | Normosmic hypogonadotropic hypogonadism and Kallmann syndrome (KAL4) | 607002 [610628] |
| Prokineticin receptor 2 (PROKR2) | Kallmann syndrome (KAL3) | 607123 [244200] |
| R-spondin family, member 1 (RSPO1) | 46,XX, female-to-male sex reversal (individuals contain testes) | 609595 |
| Sex-determining region Y (SRY) | Mutations lead to 46,XY females; translocations lead to 46,XX males | 480000 |
| SRY-related HMG-box gene 9 (SOX9) | Autosomal 46,XY male-to-female sex reversal (campomelic dysplasia) | 608160 |
| Tachykinin 3 (TAC3) | Normosmic hypogonadotropic hypogonadism | 162330 |
| Tachykinin receptor 3 (TACR3) | Normosmic hypogonadotropic hypogonadism | 162332 |
Because of space limitations, most cases associated with female-to-male sex reversal due to steroidogenesis defects, syndromes, and chromosomal abnormalities are excluded from the table. The primary reference (in parentheses) is included for work not yet described in OMIM.