Table 1.

Overview of the ZP mutations

Mutated genes	cDNA changes	Genotype	Inheritance	Phenotype	Reference
ZP1	c.1169-1176del	Homozygous	AR	Lack of ZP	[16]
	c.1708G>A	Homozygous	AR	Lack of ZP	[10]
	c.1228C>T	Homozygous	AR	Lack of ZP	[10]
	c.507del	Homozygous	AR		[10]
	c.1430+1G>T	Compound heterozygous	AR	Lack of ZP	[10]
	c.1775-8T>C			Lack of ZP
	c.181C>T	Compound heterozygous	AR	EFS	[9]
	c.1169-1176del
	c.1100A>G	Compound heterozygous	AR	Lack of ZP	[17]
	c.1215del
	c.170-174del	Compound heterozygous	AR	EFS	[12]
	c.1169-1176del
	c.1510C>T	Homozygous	AR	EFS	[11]
	c.1014+1G>A	Homozygous	AR	EFS	[11]
	c.123C>A	Compound heterozygous	AR	EFS	[11]
	c.1663C>T
	c.1129-1130del	Homozygous	AR	EFS	[11]
	c.508del	Compound heterozygous	AR	EFS	[11]
	c.1573-2A>G
	c.2T>A	Compound heterozygous	AR	EFS	This report
	c.1112+1G>T
ZP2	c.1115G>C	Homozygous	AR	Thin or lack of ZP	[10]
ZP3	c.130G>A	Homozygous	AR	Thin ZP	[18]
	c.1695-2A>G	Homozygous	AR	Thin ZP	[19]
	c.1691-1694dup	Homozygous	AR	Thin ZP	[19]
	c.400G>A	Heterozygous	AD	EFS	[13]
	c.763G>C	Heterozygous	AD	Lack of ZP	[10]

AR autosomal recessive, AD autosomal dominant, ZP zona pellucida