title: Congenital ptosis, scoliosis, and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations.
abstract: Malignant hyperthermia susceptibility is a rare pharmacogenic disorder of skeletal muscle calcium regulation caused by mutations in the skeletal muscle ryanodine receptor 1 gene (RYR1). It is important to identify children who are candidates for ophthalmic surgery who might harbor RYR1 mutations because intraoperative malignant hyperthermia is potentially lethal. We report 2 siblings with congenital ptosis and scoliosis who were considered for ptosis surgery but were found to harbor underlying recessive RYR1 mutations.
authors.affiliation: Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
authors.forename: Amani
authors.initials: A
authors.lastname: AlBakri
authors.affiliation: Department of Medicine, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Karaoui
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
authors.affiliation: Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address: arif.khan@mssm.edu.
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
mesh_terms: D001763:Blepharoptosis / Q000151:congenital / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D011859:Radiography; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D012447:Sacrum / Q000002:abnormalities; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics*; D035781:Siblings
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel