Alternative titles; symbols
ORPHA: 423;
Cytogenetic location: 3q13.1 Genomic coordinates (GRCh38): 3:103,100,001-111,600,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 3q13.1 | {Malignant hyperthermia susceptibility 4} | 600467 | Autosomal dominant | 2 |
Malignant hyperthermia (MH) is a potentially lethal pharmacogenetic disease for which MH susceptibility (MHS) is transmitted as an autosomal dominant trait. A potentially life-threatening MH crisis is triggered by exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants (summary by Sudbrak et al., 1995).
For a phenotypic description and a discussion of genetic heterogeneity of susceptibility to malignant hyperthermia, see MHS1 (145600).
In a single German pedigree with classic malignant hyperthermia, Sudbrak et al. (1995) found a maximum multipoint lod score of 3.22 for linkage to markers defining a 1-cM interval on 3q13.1. The malignant hyperthermia phenotype was determined by the in vitro contracture test (IVCT) performed on a sample of freshly obtained muscle.
Sudbrak, R., Procaccio, V., Klausnitzer, M., Curran, J. L., Monsieurs, K., Van Broeckhoven, C., Ellis, R., Heyetens, L., Hartung, E. J., Kozak-Ribbens, G., Heilinger, D., Weissenbach, J., Lehman-Horn, F., Mueller, C. R., Deufel, T., Stewart, A. D., Lunardi, J. Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am. J. Hum. Genet. 56: 684-691, 1995. [PubMed: 7887423]