Table 1.
PNPLA6-related disorders
| Syndrome | Features | Mutations* |
|---|---|---|
| Pure ataxia | Ataxia | c.3847G>A c.3929A>T |
| Boucher-Neuhäuser | Ataxia, hypogonadotropic hypogonadism, chorioretinal dystrophy | c.288T>G c.343-2A>T c.865C>G c.1732G > T c.2212-1G > C c.2944_2947dub c.3134C > T c.3173C > T c.3197T > C c.3328G > A c.3365C > T c.3373G>A c.3519C>G c.3932 G>A c. 4075 C >T c.4081C>T (novel) |
| Gordon Holmes | Ataxia, hypogonadotropic hypogonadism, pyramidal signs | c.1127insG c.2297T>C (novel) c.2494insTGTGGGCCTGGGG c.3084_3085insGCCA c.3295 C>T c.3380 C> G c.3387G>A (novel) c.3526G>A c.3931C >T c.4084C > G |
| Laurence-Moon | Ataxia, distal muscle wasting, spastic paraplegia, trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy | c.3526G>A c.3084_3085insGCCA dup(Ex14-20) |
| Oliver-McFarlane | Ataxia, distal muscle wasting, blindness due to severe photoreceptor degeneration, dwarfism due to pituitary growth hormone deficiency, trichomegaly and progressive alopecia | c.1238_1239insC c.1571T>C c.1973+2T>G c.2116C>T c.2763G>A c.3322C>T c.3373G>A c.3385G>C c.343-2A>T c.1076C>T c.3084_3085insGCCA |
| Spastic-ataxia | Ataxia with spastic paraplegia | c.3084_3085insGCCA c.3299T > G |
| Hereditary spastic paraplegia 39 (SPG39) | Spastic paraplegia with distal muscle wasting | c.787G > A c.2519G > A c.2669G > A c.2946_2947ins CAGC c.3034 A > G |