TABLE 1.
The currently reported phenotypes and genotypes of MEIOB gene in infertility patients.
| NO. | cDNA change | Amino acid change (region) | Phenotype of subjects | References |
|---|---|---|---|---|
| 1 | c.191A > T (hom) | p.N64I(OBCD1) | NOA | Gershoni et al. (2017) |
| 2 | c.1098del (hom) | p.S366fs (OBCD3) | NOA | Gershoni et al. (2019) |
| 3 | c.1218G > A (hom) | p.Cys345Trpfs8(OBCD3) | POI | Caburet et al. (2019) |
| 4 | c.897_1431del (hom) | p.219del178aa (OBCD2) | NOA | Krausz et al. (2020) |
| 5 | c.1140_1143del (hom) | p.Cys345Trpfs8(OBCD3) | NOA | |
| 6 | c.318C > A (het) | p.Ser106Arg (OBCD1) | oligozoospermia | Cannarella et al. (2021) |
| 7 | c.634G > A (het) | p.Asp212Asn(OBCD2) | oligozoospermia | |
| c.643 T > G (het) | p.Ser215Ala (OBCD2) | |||
| 8 | c.634G > A (het) | p.Asp212Asn(OBCD2) | NOA | |
| c.* 4G > A (het) | ||||
| 9 | c.683-1G > A (hom) | NOA and POI | Wu et al. (2021) | |
| 10 | c.1118-1121del (hom) | p.phe373ser (OBCD3) | NOA | Kherraf et al. (2022) |