Table 1.
Mutations causing different variants of skeletal dysplasias.
| Channelopathy | Mutations | References |
|---|---|---|
| Autosomal dominant brachyolmia type 3 | S542Y, Y602C, R616Q, V620I, L709M | [124,127,128,129] |
| Spondylo-epimetaphyseal dysplasia Maroteaux pseudo-Morquio type | E183K, Y602C, E797K, P799R, P799L/P799Lfs63X | [123,130,131,132,133,134,135] |
| Spondylometaphyseal dysplasia Kozlowski | A217S, E278K, I331T, D333G, L523dup, R594H, L596P, G600W, F617L, M625I, L709M, A716S, C777Y, E797K | [47,130,131,132,133,136,137] |
| Parastremmatic dwarfism | R594H, E797K, P799R | [131,132,133,135,137] |
| Metatropic dysplasia | G78W, T89I, K197R, L199F, K276E, E278K, T295A, I331T, I331F, D333-E337delinsE, V342F, K407E, K471del, F592L, I694M, F617L, L618Q, T740I, R775K, E797K, P799S, P799A, P799L | [47,123,131,132,133,134,135,136,137,138,139] |
| Familial digital arthropathy brachydactyly | G270V, R217P, F272L | [124,136] |