Table 2.
Previously reported cases with pathogenic variants described in this case series.
| Publications | Zygosity | Allele 1 | Allele 2 | Age of onset | Origin | Phenotype | Initial Signs/symptoms | Vison impairment? |
|---|---|---|---|---|---|---|---|---|
| Debs et al. (2) | Hetero | c.956A>G_p.Y319C | 30 kb del (Exon 11-17) | ~5 years | French | Juvenile | Bilateral vision loss | Yes |
| Debs et al. (2) | Hetero | c.956A>G_p.Y319C | 30 kb del (Exon 11-17) | ~12 years | French | Juvenile | Spastic paresis | No |
| Debs et al. (2) | Hetero | c.956A>G_p.Y319C | 30 kb del (Exon 11-17) | ~5 years | French | Juvenile | Impaired vision | Yes |
| Farina et al. (3) | Hetero | c.956A>G_p.Y319C | 30 kb del (Exon 11-17) | ~23 years | N/A | Adult | Walking difficulty | No |
| Farina et al. (3) | Hetero | c.956A>G_p.Y319C | 30 kb del (Exon 11-17) | ~23 years | N/A | Adult | Walking difficulty | No |
| Duffner et al. (16) | Hetero | c.956A>G p.Y319C | c.860 1G>A | 29 months | N/A | Late-infantile | N/A | N/A |
| Szymańska et al. (17) | Hetero | c.1186C>T_p.R396W | 30 kb del (Exon 11-17) | 13 months | Polish | Late-infantile | Swallowing difficulty | No |
| Duffner et al. (18) | Hetero | c.1186C>T p.R396W | 30 kb del (Exon 11-17) | N/A | N/A | Infantile | N/A | N/A |
| Tappino et al. (11) | Hetero | c.1186C>T p.R396W | c.749T>C p.I250T | 11 months | N/A | Infantile | Hypotonia | N/A |
| Naidu et al. (19) | Homo | c.1186C>T p.R396W | c.1186C>T p.R396W | 11 months | N/A | Infantile | Motor regression | No |
| Madsen et al. (20) | Homo | c.1186C>T p.R396W | c.1186C>T p.R396W | 11 months | Non-European | Infantile | Motor regression | No |
| Zhao et al. (21) | Hetero | c.1901T>C_p.L634S | c.953C>T_p.P318L | N/A | Chinese | N/A | Limb movement disorder | No |
| Zhao et al. (21) | Hetero | c.1901T>C_p.L634S | Unknown | ~20 years | Chinese | Adult | Aphasia | No |
| Zhao et al. (21) | Hetero | c.1901T>C_p.L634S | c.195+1 G>A | 8 years 10 months | Chinese | Juvenile | Vision impairment | Yes |
| Zhao et al. (21) | Hetero | c.1901T>C_p.L634S | c.379C>T_p.R129X | 2 years | Chinese | Late-infantile | Motor regression | No |
| Zhao et al. (21) | Hetero | c.1901T>C_p.L634S | c.1048 T>G_p.F350V | 10 months | Chinese | Infantile | Developmental delay | Yes |
| Tappino et al. (11) | Hetero | c.1901T>C_p.L634S | c.1489+1G>A | 7 months | N/A | Infantile | Spasticity | No |
| Zhang et al. (14) | Hetero | c.1901T>C_p.L634S | c.1901delT | 20 years | Chinese | Adult | Limb weakness | No |
| Satoh et al. (22) | Homo | c.1901T>C_p.L634S | c.1901T>C_p.L634S | 38 years | N/A | Adult | Spastic paresis | No |
| Xu et al. (23) | Hetero | c.1901T>C_p.L634S | p.P318A | 8 months | Japanese | Infantile | N/A | N/A |
| Furuya et al. (6) | Hetero | c.1901T>C_p.L634S | c.582+5G>A | ~20 years | Japanese | Adult | Spastic paresis | No |
| Meng et al. (24) | Hetero | c.1901T>C_p.L634S | c.1005C>G_p.Y335X | ~40 years | Chinese | Adult | Spastic paresis | Yes |
| Hossain et al. (13) | Hetero | c.1901T>C_p.L634S | Unknown | ~56 years | Japanese | Adult | N/A | N/A |
| Hossain et al. (13) | Hetero | c.1901T>C_p.L634S | c.1985G>C_p.G662A | ~35 years | Japanese | Adult | N/A | N/A |
| Hossain et al. (13) | Hetero | c.1901T>C_p.L634S | Unknown | ~14 years | Japanese | Adult | N/A | N/A |
| Hossain et al. (13) | Hetero | c.1901T>C_p.L634S | c.904C>G_p.P302A | ~3 years | Japanese | Late-infantile | N/A | N/A |
| Hossain et al. (13) | Hetero | c.1901T>C_p.L634S | Unknown | ~2 years | Japanese | Late-infantile | N/A | N/A |
| Hossain et al. (13) | Hetero | c.1901T>C_p.L634S | c.1719dupT | 14 months | Japanese | Late-infantile | N/A | N/A |
| Hossain et al. (13) | Hetero | c.1901T>C_p.L634S | c.1719dupT | 11 months | Japanese | Infantile | N/A | N/A |
| Yoshimura et al. (25) | Hetero | c.1901T>C_p.L634S | c.683_694delinsCTC | 11 months | Japanese | Infantile | Spastic paresis | Yes |
| Lim et al. (26) | Hetero | c.1901T>C_p.L634S | c.1687A>T:p.K563X | ~12 years | N/A | Juvenile | Walking difficulty | Yes |
| Xia et al. (27) | Homo | c.1901T>C_p.L634S | c.1901T>C_p.L634S | ~22 years | Chinese | Adult | Seizures | No |
| Xie et al. (27) | Hetero | c.1901T>C_p.L634S | c.1321C>T p.Q441X | ~12 years | Chinese | Juvenile | Ataxia and spastic paresis | N/A |
| Xie et al. (27) | Herero | c.1901T>C_p.L634S | c.2041G>A p.V681M | ~26 years | Chinese | Adult | Spastic paresis | N/A |
This table includes all previously published reports of cases involving c.296+1G>T, c.956A>G_p.Y319C, and c.1186C>T_p.R396W. Columns with N/A means that the original publication did not include the pertinent information.