Table 2.

SC gene mutations identified in infertile patients

Gene	Location	DNA change	AA change	Heterozygosity	Origin	Disease/Phenotype	Reference
SYCP2	20q13.33	c.2022_2025del	p.Lys674AsnfsTer8	Heterozygous	-	cryptozoospermia	68
SYCP2	20q13.33	c.2793_2797del	p.Lys932SerfsTer3	Heterozygous	-	cryptozoospermia	68
SYCP2	20q13.33	c.3067_3071del	p.Lys1023LeufsTer2	Heterozygous	-	azoospermia	68
SYCP3	12q23.2	c.548T>C	p.Ile183Thr	Heterozygous	Caucasian/Arabic mixed	recurrent miscarriage	70
SYCP3	12q23.2	c.553-16_19del	-	Heterozygous	Japanese	RPL	71
SYCP3	12q23.2	c.643delA	-	Heterozygous	Hispanic/Arabs	azoospermia	72
SYCP3	12q23.2	c.657T>C	-	Heterozygous	Japanese	RPL	71, 107, 108
SYCE1	10q26.3	c.197-2A>G	Splicing site	Homozygous	Iranian	NOA	30, 76
SYCE1	10q26.3	c.271+2T>C	Splicing site	Homozygous	Han Chinese	NOA	75
SYCE1	10q26.3	c.375-2A > G	Splicing site	Homozygous	Iranian	NOA	30, 77
SYCE1	10q26.3	c.475G>A	p.Glu159Lys	Compound heterozygous	Han Chinese	POI	75
SYCE1	10q26.3	c.613C>T	p.Gln205*	Homozygous	Israeli	POF	30, 78, 79
SYCE1	10q26.3	c.658_662delGAGGG	p.Glu220ProfsTer5	Heterozygous	Mixed	POI	74
SYCE1	10q26.3	c.689_690del	p.Phe230Serfs*21	Compound heterozygous	Han Chinese	POI	75
SYCE1	10q26.3	gross deletion (>4000bp)	-	Homozygous	Chinese	POI	85
SYCE1	10q26.3	whole gene deletion	-	Homozygous	Chinese	NOA	86
C14orf39	14q23.1	c.135_136del	p.Lys45Asnfs*5	Homozygous	Han Chinese	NOA	75
C14orf39	14q23.1	c.204_205del	p.His68Glnfs*2	Homozygous	Pakistani	NOA/POI	73
C14orf39	14q23.1	c.207_210delTGAG	p.Ser69ArgfsTer53	Heterozygous	Mixed	POI	74
C14orf39	14q23.1	c.508C>T	p.Arg170*	Homozygous	Han Chinese	POI	75
C14orf39	14q23.1	c.958G>T	p.Glu320*	Homozygous	Chinese	meiotic arrest	73
C14orf39	14q23.1	c.1180-3C>G	Splicing site	Homozygous	Chinese	meiotic arrest	73

Abbreviation: RPL, recurrent pregnancy loss; NOA, non-obstructive azoospermia; POF, premature ovarian failure; POI, premature ovarian insufficiency.