Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in .

Background: Pathogenic variants in ryanodine receptor 1 ( MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies.

Methods: We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple other systemic complaints that were noted early in life. Later she was found to have multiple bone deformities involving her spine, with severe scoliosis that was corrected surgically.

Pharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients.

Background: We characterized the pharmacogenomics (PGx) results received by diagnostic odyssey patients as secondary findings during clinical whole exome sequencing (WES) testing as a part of their care in Mayo Clinic's Individualized Medicine Clinic to determine the potential benefits and limitations to this cohort.

Methods: WES results on 94 patients included a subset of PGx variants in ,, and if identified in the patient. Demographic, phenotypic, and medication usage information was abstracted from patient medical data.