Table 2 of
Gregory-Evans, Mol Vis 2025; 31:175-188. Table 2 of
Gregory-Evans, Mol Vis 2025; 31:175-188.
Table 2. TUBB4B variants and associated phenotypes.
| Reported TUBB4B variants | Hearing loss (HL) onset (yr), respectively | Eye disease onset (yr), respectively | Phenotype | References |
|---|---|---|---|---|
| c.1168C>T, p.(Arg390Trp) | ||||
| Canadian family - 4 affected patients | 10, 11, 37, 16 year | 17, 23, 32, 27 year | RP, nyctalopia, VF loss | This paper |
| German simplex case | NR, severe HL at 36 year | 36 year | Reduced ERG, ring atrophy | Bodenbender et al., 2024 |
| c.1172G>A, p.(Arg391His) | ||||
| 3 French /1 Algerian family | birth, 3, 7, 8 year | birth x 2, 2.5, 3 year | LCAEOD | Luscan et al., 2017 |
| 1 American de novo case | 3 year | 6 year | LCAEOD, VD | Medina et al., 2021 |
| 1 German mosaic (24%) case | 17yr | 17yr | Nyctalopia, atrophic areas, reduced ERG | Bodenbender et al., 2024 |
| c.1171C>T, p.(Arg391Cys) | ||||
| Danish de novo case | birth | birth | LCAEOD | Luscan et al., 2017 |
| 1 Chinese de novo case | 8 months | 2 year | LCAEOD, VD | Medina et al., 2021 |
| Hungarian family - 3 affected patients | NR in 2 patients, 3.5 year | 7 months, 2.75 year, 3 year | LCAEOD | Maasz et al. 2022 |
| German simplex case | NR, moderate HL at 24 year | 4yr | Atrophic lesions, reduced ERG | Bodenbender et al., 2024 |
| c.1169G>A, p.(Arg390Gln) | ||||
| German family - 2 affected patients | NR, moderate HL at 69 year, no HL at 39 year | 30 and 25 year | Ring atrophy, BS, Reduced ERG | Bodenbender et al., 2024 |
| c.928T>C, p.(Tyr310His) | ||||
| German de novo case (VUS) | birth | 1 year | Reduced ERG | Bodenbender et al., 2024 |
| c.32A>G, p.(Gln11Arg) | ||||
| American de novo case | birth | 6 months | Hyperopia, microcornea, plus FS | McFadden et al., 2023 |
| c.1072C>T, p.(Pro358Ser) | ||||
| 4 de novo cases 3 Caucasian / 1 African | 1.5, 14, 11, 10 year | 1.5, 14, 11, 10 year | LCAEOD plus primary ciliary dyskinesia | Dodd et al., 2024 |