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Overview of 20 novel genes with LoF variants significantly enriched in POI. The upper graph is a schematic representation of the ovary development process, categorized into four stages: gonadogenesis, oogenesis, folliculogenesis and oocyte maturation and ovulation. The lower graph depicts the physiological roles and molecular mechanisms throughout ovary development of 20 significantly enriched genes. LGR4 and PRDM1 are involved in gonadogenesis; KASH5 , CPEB1 , MCMDC2 , MEIOSIN , NUP43 , RFWD3 , SHOC1 , SLX4 and STRA8 are involved in various meiotic processes; and ALOX12 , BMP6 , CPEB1 , H1-8 , HMMR , HSD17B1 , MST1R , PPM1B , ZAR1 and ZP3 are involved in follicle development, oocyte maturation and ovulation. Genes may be engaged in multiple processes.

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