title: Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation.
abstract: Malignant hyperthermia (MH) is an autosomal dominant disorder of skeletal muscle calcium regulation, and the rate of calcium-induced calcium release (CICR), determined by using skinned fibers of skeletal muscle, has been employed as a diagnostic test for MH susceptibility in Japan. The ryanodine receptor (RYR1), encoding the major calcium-release channel in skeletal muscle sarcoplasmic reticulum, has been shown to be mutated in a number of MH pedigrees. We experienced the detection of accelerated CICR and/or an RYR1 mutation in a patient with an MH episode and his family. Accelerated CICR and an RYR1 mutation (c.14512C>G, p.L4838V) were found in the patient and his father. The MH-causative mutation (c.14512C>G, p.L4838V) was also found in his brother and his son (resulting in the diagnosis of MH without the CICR test), but the mutation was not found in his mother or two daughters. With the detection of the family-specific mutation in other family members, the diagnosis of MH was made without the invasive CICR test.
authors.affiliation: Department of Anesthesia, Nagasaki Rosai Hospital, Sasebo, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Tanabe
authors.forename: Makoto
authors.initials: M
authors.lastname: Fukusaki
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Terao
authors.forename: Kazunori
authors.initials: K
authors.lastname: Yamashita
authors.forename: Koji
authors.initials: K
authors.lastname: Sumikawa
authors.forename: Keiko
authors.initials: K
authors.lastname: Mukaida
authors.forename: Carlos A
authors.initials: CA
authors.lastname: Ibarra
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000328:Adult; D002118:Calcium / Q000378:metabolism*; D005190:Family; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007564:Japan; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics* / Q000378:metabolism
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D002118:Calcium