Female infertility often results from problems connected to producing eggs. Oocyte maturation is a complex process that includes meiotic division and recombination, nuclear maturation, and epigenetic modification. Each stage of this process is regulated by a large network of genes. Pathogenic variants in these genes can result in the recurrent failures of in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) programs due to a poor response to ovarian stimulation, oocyte maturation arrest, poor quality of gametes, fertilization failure, or early embryonic development arrest (Solovova and Chernykh, 2022).
The zona pellucida (ZP) is a glycoprotein matrix that surrounds oocytes and has an average thickness of 17 micrometers. It is vital for the production of oocytes in early development, for fertilization, and for protection of early embryos before implantation. Absence of the zona pellucida in OOMD1 results in sterility (summary by Huang et al., 2014).
Reviews
Solovova and Chernykh (2022) reviewed the genetics of oocyte maturation defects and early embryo development arrest.
Genetic Heterogeneity of Oocyte/Zygote/Embryo Maturation Arrest
Also see OZEMA2 (616780), caused by mutation in the TUBB8 gene (616768) on chromosome 10p15; OZEMA3 (617712), caused by mutation in the ZP3 gene (182889) on chromosome 7q11; OZEMA4 (617743), caused by mutation in the PATL2 gene (614661) on chromosome 15q21; OZEMA5 (617996), caused by mutation in the WEE2 gene (614084) on chromosome 7q34; OZEMA6 (618353), caused by mutation in the ZP2 gene (182888) on chromosome 16p12; OZEMA7 (618550), caused by mutation in the PANX1 gene (608420) on chromosome 11q21; OZEMA8 (619009), caused by mutation in the BTG4 gene (605673) on chromosome 11q23; OZEMA9 (619011), caused by mutation in the TRIP13 gene (604507) on chromosome 5p15; OZEMA10 (619176), caused by mutation in the REC114 gene (618421) on chromosome 15q24; OZEMA11 (619643), caused by mutation in the ASTL gene (608860) on chromosome 2q11; OZEMA12 (619697), caused by mutation in the FBXO43 gene (609110) on chromosome 8q22; OZEMA13 (620154), caused by mutation in the ZFP36L2 gene (612053) on chromosome 2p21; OZEMA14 (620276), caused by mutation in the CDC20 gene (603618) on chromosome 1p34; OZEMA15 (616814), caused by mutation in the TLE6 gene (612399) on chromosome 19p13; OZEMA16 (617234), caused by mutation in the PADI6 gene (610363) on chromosome 1p36; OZEMA17 (620319), caused by mutation in the KPNA7 gene (614107) on chromosome 7q22; OZEMA18 (620332), caused by mutation in the NLRP2 gene (609364) on chromosome 19q13; OZEMA19 (620333), caused by mutation in the NLRP5 gene (609658) on chromosome 19q13; OZEMA20 (620383), caused by mutation in the MOS gene (190060) on chromosome 8q12; and OZEMA21 (620610), caused by mutation in the CHEK1 gene (603078) on chromosome 11q24. [from
OMIM]