Alternative titles; symbols
ORPHA: 423;
Cytogenetic location: 5p Genomic coordinates (GRCh38) : 5:1-48,800,001
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 5p | {Malignant hyperthermia susceptibility 6} | 601888 | 2 |
Malignant hyperthermia (MH) is a life threatening disorder triggered in susceptible individuals on exposure to commonly used inhalational anaesthetics, e.g., halothane and the depolarizing muscle relaxant suxamethonium (succinyl choline) (summary by Robinson et al., 1997)
For a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 (145600).
In a Belgian kindred with malignant hyperthermia, Robinson et al. (1997) performed a genomewide search for the locus responsible for this disorder. Disease status was classified according to the European IVCT (in vitro contracture tests) protocol. Multipoint linkage analysis showed linkage to the region on 5p between D5S419 and D5S398. They also found linkage of MHS to chromosome 1q (601887). Robinson et al. (1997) stated that studies in a third kindred suggested the existence of at least 1 more MHS locus.
Robinson, R. L., Monnier, N., Wolz, W., Jung, M., Reis, A., Nuernberg, G., Curran, J. L., Monsieurs, K., Stieglitz, P., Heytens, L., Fricker, R., van Broeckhoven, C., Deufel, T., Hopkins, P. M., Lunardi, J., Mueller, C. R. A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum. Molec. Genet. 6: 953-961, 1997. [PubMed: 9175745] [Full Text: https://doi.org/10.1093/hmg/6.6.953]