<p>Malignant hyperthermia (MH) is a genetic disorder that causes a profound metabolic derangement following exposure to certain anesthetics. While approximately half of all cases are associated with ryanodine receptor-1 gene (RYR1) mutations, many cases have an unknown genetic cause. We sought to identify rare variants in novel MH candidate genes by sequencing the protein-coding regions of the genomes of individuals whose disease was either ruled in or out by the gold-standard diagnostic test. We also carefully selected individuals from well-characterized families to use gene-sharing information and maximize efficiency in the study design. Exome sequencing has helped identify the causes of over a dozen Mendelian disorders, has high power at low sample sizes, and is cost-efficient compared to whole-genome sequencing.</p>

Next Generation Mendelian Genetics: Malignant Hyperthermia

2 selected publications including "Exome sequencing in sporadic autism spectrum disorders identifies seve..." (1,151 citations)

Next Generation Mendelian Genetics: Malignant Hyperthermia

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Genetic variation in RYR1 and malignant hyperthermia phenotypes.