Table 2.

Genetic analyses of globozoospermic patients reported in literature.

Gene	Exons Examined	Method to Identify Mutations	N° Globozoospermic Patients	N Patients Carrying Mutation	Reference
PICK1	exon 13	PCR and Sequencing	3 members of a Chinese family	1/3 homozygous mutated (c.1567G>A)	[17]
	all exons	PCR and Sequencing	1 Macedonian man	0/1	[50]
	exon 13	qPCR	27 Iranian men (of which 17 unrelated)	0/27	[48]
	all exons	PCR and Sequencing	4 unrelated Tunisian men (with no DPY19L2 mutations)	0/4	[53]
	exon 13	Sequencing	18 unrelated Italian men	0/18	Present study
SPATA16	exon 4	Genomewide scan analysis using a 10K SNP array	3 brothers of a consanguineous Ashkenazi Jewish family	3/3 homozygous mutated (c.848G>A)	[18]
	all exons	PCR and Sequencing	1 Macedonian man	1/1 two polymorphisms (rs115897458 and rs508508)	[50]
	exon 2	PCR and Sequencing	19 (DPY19L2 undeleted) unrelated men originating from France, Italy, Tunisia, Turkey, Libya and Morocco	2/19 (unrelated Tunisian men) deleted	[46]
	exon 4	qPCR	27 Iranian men (of which 17 unrelated)	0/27	[48]
	all exons	PCR and Sequencing	4 unrelated Tunisian men (with no DPY19L2 mutations)	0/4	[53]
	exon 2	PCR and Sequencing	2 unrelated Tunisian men	2/2 deleted	[47]
	exon 4	Sequencing	18 unrelated Italian men	0/18	Present study
DPY19L2	all exons	Whole genome SNP scan	20 men (15 from Tunisia, 1 from Algeria, 2 from Morocco, 1 from Turkey and 1 from Slovenia), most of them first cousins	15/20 homozygous deleted	[19]
	exons 2, 7, 9, 10, 13, 17, 21	Genome-wide scan analysis using 10K SNP arrays	28 men (4 brothers from a Jordanian consanguineous family, 11 from France, 2 brothers from Algeria, 1 from Iran, 4 from Tunisia, 1 from Lybia, 1 from Italy, 1 from Morocco and 3 of undetermined origin)	4 Jordanian brothers: homozygous deleted for all the exons examined 4 unrelated subjects deleted	[20]
	all exons	Multiplex Ligation-dependent Probe Amplification (MLPA) and Sequencing	34 men from France and Tunisia (including 20 men described in Harbuz et al. 2011)	23/34 (67.6%) homozygous deleted 2/34 (5.9%) heterozygous deleted 9/34 (26.4%) non-deleted Point mutations identified: - exon 8: heterozygous missense mutation (c.869G>A) - exon 9: heterozygous nonsense mutation (c.1024C>T) - exon 10: homozygous missense mutation (c.1073T>A)	[21]
	exons 4, 5, 6, 7, 8, 9, 10, 11, 15, 16, 21	PCR	54 genetically independent men for all types of mutations (from 13 different countries including Iran, France, Algeria, Turkey, Morocco, Belgium, USA, Italy)	36/54 mutated (69.4%: homozygous deleted; 19.4%: heterozygous composite; 11.1%: homozygous point mutated) Point mutations identified: - exon 8: missense mutation (c.869G>A), non-synonymous mutation (c.892C>T) - exon 9: premature stop codon (c.1033C>T) - exon 15: non-synonymous mutation (c.1478C>G) - exon 21: premature stop codon (c.2038A>T) - exon 11: premature stop codon (c.1183delT)	[49]
	exons 1, 11, 22	PCR and Sequencing	2 Macedonian men	2/2 homozygous deleted	[50]
	all exons	PCR and Sequencing	15 unrelated Chinese men	4/15 homozygous deleted	[51]
	all exons	qPCR	9 men (7 from Italy and 2 from Spain)	3/9 deleted (2 homozygous, 1 heterozygous) 1/9 wild-type 5/9 point mutated (4 missense, 3 intronic and 2 synonymous)	[24]
	exons 1, 17, 22	PCR and Sequencing	5 men from Algeria (of which 3 brothers)	5/5 homozygous deleted	[52]
	exons 1, 5, 6, 7, 11, 22	qPCR	27 Iranian men (of which 17 unrelated)	20/27 deleted	[48]
	all exons	PCR and Sequencing	18 unrelated Tunisian men	11/18: homozygous deleted in exon 10 2/18: homozygous for non-synonymous mutation (c.892C>T) in exon 8 1/18: homozygous for a new splice-site mutation at the junction exon–intron 16	[53]
	exon 10	PCR and Sequencing	2 unrelated Tunisian men	0/2	[47]
	all exons	Whole-exome sequencing	9 unrelated Chinese men	5/9 deleted 4/9 with novel point mutations	[54]
	exons 1, 10, 11, 12, 20, 22	PCR	18 unrelated Italian men	6/18 deleted (1/18 in exon 11; 1/18 in exon 22; 4/18 in exons 10, 12 and 22)	Present study