Table 3.

Candidate genes identified in 14 women from 7 families (POI 1–7) with premature ovarian insufficiency

Family ID	Gene	Full name (HGNC)	OMIM	Biological process related to ovarian function
POI 1	CSMD1	CUB and Sushi multiple domains 1	608397	Reproductive structures development
	CASP2	Caspase 2	600639	Cellular apoptosis
POI 2	XPC	XPC complex subunit, DNA damage recognition and repair factor	613208	DNA damage repair
	RXFP2	Relaxin family peptide receptor 2	606655	Follicle formation and development
POI 3	ROBO1	Roundabout guidance receptor 1	602430	Follicle formation and development
	HOXA1	Homeobox A1	142955	Transcription
	VWF	Von Willebrand factor	613160	Follicle atresia
	TPM1	Tropomyosin 1	191010	Follicle formation and development
	PIWIL3	Piwi like RNA-mediated gene silencing 3	610314	Maintaining genome integrity in mammalian oocytes
POI 4	TTI2	TELO2 interacting protein 2	614426	DNA damage repair
	NFKB2	Nuclear factor kappa B subunit 2	164012	Transcription
	VDR	Vitamin D receptor	601769	Follicle formation and development
	MTNR1A	Melatonin receptor 1A	600665	Follicle formation and development
	EFNA5	Ephrin A5	601535	Follicle formation and development
	DLL1	Delta like canonical Notch ligand 1	606582	Follicle formation and development
	JAG1	Jagged canonical Notch ligand 1	601920	Follicle formation and development
	VWF	Von Willebrand factor	613160	Follicle atresia
POI 5	PTH1R	Parathyroid hormone 1 receptor	168468	Follicle formation and development
	HSD3B1	3 beta- and steroid delta-isomerase 1	109715	Follicle formation and development
	SLC6A9	Solute carrier family 6 member 9	601019	Oocyte growing
	GLO1	Glyoxalase I	138750	Follicle atresia
POI 6	PCM1	Pericentriolar material 1	600299	Cell division
POI 7	DDX11	DEAD/H-box helicase 11	601150	Cell division and DNA repair

HGNC, HUGO Gene Nomenclature Committee