Table 1.
Bi-allelic variants of dynein axonemal heavy chain 6 identified in patients with multiple morphological abnormalities of the sperm flagella and the clinical outcomes following intracytoplasmic sperm injection
| Characteristic | Patient AY0334 | Patient AY0159 | Patient AY0283 | Patient in Li et al.24 | Patient in Tu et al.13 | Patient in Gershoni et al.25 | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| cDNA mutation | c. 5264C>T | c. 8726A>G | c. 8852-1G>A | c. 10127T>A | c. 9250C>G | c. 2454A>T | c. 7706G>A | c. 6582C>A | c. 11258G>A | c. 2823dupT | c. 10025G>A | c.C10413A |
| Protein alteration | p.T1755I | p.Q2909R | / | p.V3376D | p.Q3084E | p.E818D | p.R2569H | p.D2194E | p.G3753D | p.S941fs | p.R3342H | p.H3471Q |
| Mutation type | Missense | Missense | Splicing | Missense | Missense | Missense | Missense | Missense | Missense | Frameshift | Missense | Missense |
| Affected allele | Heterozygous | Heterozygous | Heterozygous | Heterozygous | Homozygous | Heterozygous | Heterozygous | Heterozygous | Heterozygous | Heterozygous | Heterozygous | Homozygous |
| Allele frequency in population | ||||||||||||
| 1KGP | 0.001682 | 0 | 0 | 0 | 0 | 0 | 0.0003994 | / | / | / | 0.001 | / |
| gnomAD | 0 | 0.00001396 | 0 | 0 | 0 | 0.00003227 | 0.001647 | / | / | / | / | / |
| gnomAD-EAS | 0 | 0.0006 | 0 | 0 | 0 | / | / | / | / | / | / | / |
| Function prediction | ||||||||||||
| SIFT | Damaging | Damaging | NA | NA | Damaging | Tolerable | Damaging | Damaging | Damaging | / | Damaging | / |
| PolyPhen-2 | Damaging | Benign | NA | NA | Damaging | Benign | Probably damaging | Probably damaging | Probably damaging | / | Probably damaging | / |
| Mutation taster | Damaging | Damaging | NA | NA | Damaging | / | / | Damaging | Damaging | / | Damaging | / |
| ICSI outcomes | ||||||||||||
| Male age (year) | 30 | 38 | 28 | / | / | / | / | |||||
| Female age (year) | / | 33 | / | / | / | / | / | |||||
| ICSI cycles (n) | / | 1 | / | 2 | 1 | / | / | |||||
| Oocytes retrieved (n) | / | 8 | / | / | / | / | / | |||||
| Oocytes injected (n) | / | 7 | / | / | / | / | / | |||||
| Fertilization rate, % (n/total) | / | 100.0 (7/7) | / | / | / | / | / | |||||
| Cleavage rate, % (n/total) | / | 100.0 (7/7) | / | / | / | / | / | |||||
| 8-cell formation rate, % (n/total) | / | 71.4 (5/7) | / | / | / | / | / | |||||
| Blastocyst formation rate, % (n/total) | / | 57.1 (4/7) | / | / | / | / | / | |||||
| High quality blastocyst rate, % (n/total) | / | 14.3 (1/7) | / | / | / | / | / | |||||
| Transfer cycles (n) | / | 1 | / | / | / | / | / | |||||
| Embryos transferred per cycle (n) | / | 1 | / | / | / | / | / | |||||
| Implantation rate (%) | / | 100.0 | / | / | / | / | / | |||||
| Clinical pregnancy rate per transfer cycle (%) | / | 100.0 | / | 0 | 100.0 | / | / | |||||
| Miscarriage rate (%) | / | 0 | / | / | 100.0 | / | / | |||||
Reference sequence accession number of DNAH6 is NM_001370.2. 1KGP: 1000 Genomes Project; gnomAD: the Genome Aggregation Database; NA: not available; /: not applicable; ICSI: intracytoplasmic sperm injection; DNAH6: dynein axonemal heavy chain 6; SIFT: Sorting Intolerant From Tolerant; EAS: East Asian