Table 2.
The currently reported phenotypes and genotypes of TUBB8-related diseases
| Patients No. | Mutations | Mutant type (het/homo/com het) | Inheritance patterns (AD-pa, AR, de novo, NA) | Clinical characteristics | Reference | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age (years) | Duration of fertility (years) | Previous IVF/ICSI cycles | Oocyte and fertility feature | Cleavage feature | Diagnosis | |||||||||||||
| Total no. of oocytes retrieved | GV oocyte | MI oocyte | MII (PB1) oocyte | Oocyte with abnormal morphology | Immature oocyte (unknown stage) | Normal fertilized oocyte | Abnormal fertilized oocyte | No. of normal cleavage embryos | Embryos arrested at early stage | |||||||||
| 1 | c.5G > T (p.R2M) | het | AD-pa | 28 | 5 | 1 | 6 | 1 | 5 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | MI arrest | [13] |
| 2 | c.5G > T (p.R2M) | het | AD-pa | 27 | 3 | 2 | 21 | 0 | 21 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | MI arrest | [14] |
| 3 | c.5G > A (p.R2K) | het | AD-pa | 33 | 7 | 2 | 54 | 2 | 52 | 0 | 0 | 0 | 0 | 0 | NA | NA | MI arrest | [11] |
| 4 | c.10A > C (p.I4L) | het | AD-pa | 38 | 15 | 4 | 27 | 2 | 17 | 8 | 0 | 0 | 8 | NA | 0 | 0 | Major in MI arrest, minor in 2PN arrest | [13] |
| 5 | c.35G > A (p.C12Y) | homo | AR | 32 | 7 | 2 | 27 | 0 | 7 | 1 | 0 | 0 | 1 | NA | 0 | 0 | Major in MI arrest, minor in 2PN arrest | [13] |
| 6 | c.80_100del (p.E27_A33del) | homo | AR | 23 | 3 | 3 | 33 | 3 | 19 | 1 | 0 | 10 | 0 | 0 | NA | NA | MI arrest | [12] |
| 7 | c.209C > T (p.P70L) | homo | AR | 33 | 10 | 1 | 25 | 0 | 2 | 20 | 3 | 0 | 2 | NA | 1 | 1 | Major in MII arrest, minor in 2PN arrest and early embryonic development arrest | [13] |
| 8 | c.322G > A (p.E108K) | homo | NA | 39 | 9 | 2 | 31 | 4 | 5 | 22 | 0 | 0 | 14 | 0 | 0 | 0 | 2PN arrest | Our study |
| 9 | c.426_427insG (p.T143Dfs*12) | homo | AR | 42 | 18 | 7 | 19 | 0 | 14 | 1 | 1 | 3 | 0 | 0 | NA | NA | MI arrest | [12] |
| 10 | c.527C > T (p.S176 L) | het | de novo | 34 | 10 | 4 | 43 | 3 | 40 | 0 | 0 | 0 | 0 | 0 | NA | NA | MI arrest | [11] |
| 11 | c.527C > T (p.S176 L) | het | de novo | 29 | 3 | 3 | 32 | 1 | 25 | 0 | 2 | 4 | 0 | 0 | NA | NA | MI arrest | [12] |
| 12 | c.535G > A (p.V179 M) | het | AD-pa | 27 | 5 | 2 | 24 | 0 | 24 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | MI arrest | [14] |
| 13 | c.535G > A (p.V179 M) | het | AD-pa | 29 | 6 | 3 | 46 | 0 | 46 | 0 | 0 | 0 | 0 | 0 | 0 | 0 | MI arrest | [14] |
| 14 | c.580G > A, c.1245G > A (p.E194K, p.M415I) | com het | de novo | 28 | 2 | 2 | 19 | 0 | 0 | 3 | 0 | 16 | 3 | NA | 3 | 3 | Early embryonic development arrest | [13] |
| 15 | c.613G > A (p.E205K) | het | NA | 29 | 3 | 3 | 38 | 0 | 0 | 7 | 0 | 32 | 3 | NA | 3 | 2 | Early embryonic development arrest | [13] |
| 16 | c.628A > G (p.I210V) | het | NA | 36 | 3 | 2 | 15 | 1 | 1 | 4 | 0 | 9 | 3 | 0 | NA | NA | Early embryonic development arrest | [12] |
| 17 | c.686 T > C (p.V229A) | het | AD-pa | 37 | 8 | 1 | 4 | 0 | 3 | 0 | 1 | 0 | 0 | 0 | NA | NA | MI arrest | [11] |
| 18 | c.686 T > C (p.V229A) | het | AD-pa | 32 | 10 | 2 | 21 | 0 | 21 | 0 | 0 | 0 | 0 | 0 | NA | NA | MI arrest | [11] |
| 19 | c.713C > T (p.T238 M) | het | AD-pa | 29 | 5 | 6 | 30 | 4 | 17 | 6 | 0 | 3 | 0 | 2 | NA | NA | MI arrest, early embryonic development arrest | [12] |
| 20 | c.763G > A (p.V255 M) | het | de novo | 33 | 7 | 2 | 29 | 0 | 25 | 0 | 2 | 2 | 0 | 0 | NA | NA | MI arrest | [12] |
| 21 | c.784C > T (p.R262W) | het | de novo | 34 | 3 | 2 | 36 | 0 | 32 | 0 | 0 | 0 | 0 | 4 | NA | NA | MI arrest | [12] |
| 22 | c.785G > A (p.R262Q) | het | de novo | 37 | 10 | 2 | 12 | 0 | 12 | 0 | 0 | 0 | 0 | 0 | NA | NA | MI arrest | [11] |
| 23 | c.853A > C (p.T285P) | het | NA | 32 | 10 | 4 | 11 | 0 | 11 | 0 | 0 | 0 | 0 | 0 | NA | NA | MI arrest | [12] |
| 24 | c.900G > A (p.M300I) | het | AD-pa | 26 | 6 | 2 | 26 | 0 | 26 | 0 | 0 | 0 | 0 | 0 | NA | NA | MI arrest | [11] |
| 25 | c.990G > A (p.M300I) | het | AD-pa | 32 | 10 | 2 | 6 | 0 | 4 | 2 | 0 | 0 | 2 | NA | 2 | 2 | MI arrest, early embryonic development arrest | [13] |
| 26 | c.990G > A (p.M300I) | het | AD-pa | 30 | 10 | 2 | 20 | 0 | 15 | 5 | 0 | 0 | 5 | NA | 5 | 5 | MI arrest, early embryonic development arrest | [13] |
| 27 | c.1043A > G (p.N348S) | het | NA | 34 | 7 | 4 | 55 | 0 | 5 | 0 | 0 | 42 | 8 | 0 | NA | NA | Early embryonic development arrest | [12] |
| 28 | c.1057G > A (p.V353I) | het | NA | 44 | 23 | 3 | 14 | 7 | 11 | 4 | 1 | 4 | 4 | NA | 4 | 4 | Major in MII arrest, minor in early embryonic development arrest | [13] |
| 29 | c.1088 T > C (p.M363 T) | het | AD-pa | 25 | 4 | 3 | 18 | 1 | 17 | 0 | 0 | 0 | 0 | 0 | NA | NA | MI arrest | [11] |
| 30 | c.1249G > A (p.D417N) | het | AD-pa | 37 | 9 | 5 | 37 | 7 | 30 | 0 | 0 | 0 | 0 | 0 | NA | NA | MI arrest | [11] |
| 31 | exon1–4 deletion | homo | AR | 30 | 6 | 2 | 24 | 0 | 12 | 3 | 1 | 9 | 3 | NA | 1 | 1 | Major in MI arrest, minor in 2PN arrest and early embryonic development arrest | [13] |
het heterozygous mutation, homo homozygote mutation, com het compound heterozygote mutation, AD-pa autosomal dominant inheritance-paternal origin, AR autosomal recessive inheritance, IVF in vitro fertilization, ICSI intracytoplasmic sperm injection, GV germinal vesicle, MI metaphase I, MII metaphase II, PB1 the first polar body, NA data not available or without experimental data