Table 1.
Summary of vertical transmission in azoospermia factor a microdeletion
| Study | Population | Deletion gene of proband | Type of deletion | Type of transmission (natural or ART) | Detection method | Proband phenotype (total sperm count per ml) | Father phenotype | Sibling phenotype | Son phenotype |
|---|---|---|---|---|---|---|---|---|---|
| Krausz et al.40 2006 | Family I: Italian Family II: Romanian | I: sY84, sY86 and exon 22 of USP9Y II: the 3’end of USP9Y transcript | I: USP9Y complete II: USP9Y partial | I: natural II: natural | STS PCR and CGH | I: infertility (140×106) II: azoospermia | S and fertility | ND | ND |
| Rodovalho et al.41 2008 | Mixed | Family I: sY84 Family II: sY84 | I: partial II: partial | I: natural II: ART | STS PCR | I: azoospermia II: severe oligospermia | I: S and fertility II: ND | I: S and severe oligospermia II: ND | ND |
| Luddi et al.45 2009 | Italian | USP9Y | USP9Y complete | Natural | STS PCR and CGH | Mild asthenozoospermia (54×106–660×106) | S and fertility | S and fertility | ND |
| Alksere et al.44 2019 | Latvian | sY84, sY1323 | Partial | Natural | STS PCR | Infertility | S and fertility | ND | ND |
| Tang et al.46 2020 | Han Chinese | sY84, sY86 | Complete | Natural | STS PCR and sanger sequencing | Fertility | S and fertility | ND | ND |
| Jia et al.42 2020 | Han Chinese | sY83, sY1064, sY86 | Complete | Natural | STS PCR and CGH | Fertility | S and fertility | ND | ND |
S: the deletion range is the same as the proband; NS: the deletion range is not the same as the proband; ND: the phenotype is not determined; STS: sequence tagged sites; PCR: polymerase chain reaction; CGH: comparative genomic hybridization; USP9Y: ubiquitin-specific peptidase 9, Y-linked; ART: assisted reproductive technology