Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred

Anesthesiology

Volumn 86, Issue 3, 1997, Pages 620-626

  Lynch, P J ^a   Krivosic Horber, R ^b   Reyford, H ^b   Monnier, N ^c   Quane, K ^a   Adnet, P ^d   Haudecoeur, G ^e   Krivosic, I ^f   McCarthy, T ^a   Lunardi, J ^c  

^a UNIVERSITY COLLEGE CORK   (Ireland)

^b Anesthesiology Department   (France)

^c Biochemistry Department   (France)

^d Emergency Department   (France)

^e Pharmacology Department   (France)

^f Pathology Department   (France)

Author keywords

Genetic factors: mutations; Genotype; Homozygotes; Hyperthermia: malignant

Indexed keywords

ARGININE; CAFFEINE; COMPLEMENTARY DNA; CYSTEINE; GENE PRODUCT; RYANODINE RECEPTOR;

ADOLESCENT; ADULT; ALLELE; ANESTHESIA COMPLICATION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 19; CLINICAL ARTICLE; GENE MUTATION; GENETIC LINKAGE; HAPLOTYPE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INHALATION ANESTHESIA; MALIGNANT HYPERTHERMIA; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; AMINO ACID SEQUENCE; ANIMALS; ARGININE; CALCIUM CHANNELS; CHILD; CONSANGUINITY; CREATINE KINASE; CYSTEINE; DISEASE SUSCEPTIBILITY; DNA, COMPLEMENTARY; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MALIGNANT HYPERTHERMIA; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUTATION; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0030933491     PISSN: 00033022     EISSN: None     Source Type: Journal    
DOI: 10.1097/00000542-199703000-00014     Document Type: Article

References (25)

1. Ellis FR, Heffron JJA: Clinical and biochemical aspects of malignant hyperthermia, Recent Advances in Anesthesia and Analgesia. Edited by Atkinson RS, Adams AP. New York, Churchill-Livingstone, 1985, pp 173-207
2. Britt BA: Dantrolene, an update, Malignant Hyperthermia. Edited by Britt BA. Amsterdam, Martinus-Nijhoff Press, 1987, pp 325-67
3. Iaizzo PA, Klein W, Lehmann-Horn F: Fura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs. Pfluegers Arch 1988; 411:648-53
4. McCarthy TV, Healy JMS, Heffron JJA, Lehane M, Deufel T, Lehmann-Horn F, Farrall M, Johnson K: Localisation of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 1990; 343:562-4
5. Mackenzie AE, Korneluk RG, Zorzato F, Fujii J, Phillips M, Iles D, Wieringa B, Leblond S, Bailly J, Willard HF, Duff C, Worton RG, MacLennan DH: The human ryanodine receptor gene, its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy. Am J Hum Genet 1990; 46:1082-9
6. MacLennan DH, Phillips MS: Malignant hyperthermia. Science 1992; 256:789-94
7. Deufel T, Sudbrack R, Feist Y, Rübsam B, Du Chesne I, Schäfer KL, Roewer N, Grimm T, Lehmann-Horn F, Hartung EJ, Müller CR: Discordance, in a malignant hyperthermia pedigree, between in vitro contracture-test phenotypes and haplotypes for the MHS1 region on chromosome 19q12-13.2, comprising the C184OT transition in the RYR1 gene. Am J Hum Genet 1995; 56:1334-42
8. Quane KA, Healy JMS, Keating KE, Manning BM, Couch FJ, Palmucci LM, Doriguzzi C, Fagerlund TH, Berg K, Ording H, Bendixen D, Mortier W, Linz U, Muller CR, McCarthy TV: Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 1993; 5:51-5
9. Gillard EF, Otsu K, Fujii J, Duff C, De Leon S, Khanna VK, Britt BA, Worton RG, MacLennan DH: Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics 1992; 13:1247-54
10. Quane KA, Keating KE, Manning BM, Healy JMS, Monsieurs K, Heffron JJA, Lehane M, Heytens L, Krivosic-Horber R, Adnet P, Ellis FR, Monnier N, Lunardi J, McCarthy TV: Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: Implications for diagnosis and heterogeneity studies. Hum Mol Genet 1994; 3:471-6
11. Quane KA, Keating KE, Healy JMS, Manning BM, Krivosic-Horber R, Krivosie I, Monnier N, Lunardi J, McCarthy TV: Mutation screening of the RYR1 gene in malignant hyperthermia: Detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. Genomics 1994; 23:236-9
12. Keating KE, Quane KA, Manning BM, Lehane M, Hartung E, Censier K, Urwyler A, Klausnitzer M, Muller CR, Heffron JJA, McCarthy TV: Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet 1994; 3:1855-8
13. Phillips MS, Khanna VK, DeLeon S, Frodis W, Britt BA, MacLennan DH: The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. Hum Mol Genet 1994; 3:2181-6
14. Zhang Y, Chen HS, Khanna VK, DeLeon S, Phillips MS, Schappert K, Britt BA, Brownell AKW, MacLennan DH: A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 1993; 5:46-50
15. European MH Group: A protocol for the investigation of malignant hyperthermia susceptibility. Br J Anaesth 1984; 56:1267-9
16. Lathrop GM, Lalouel JM, Julier C, Ott J: Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A 1981; 81:3443-6
17. Orita M, Suzuki Y, Sekiya T, Hayashi K: Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5:874-9
18. Chomczynski P, Sacchi N: Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 1987; 162:156-9
19. 2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum. J Biol Chem 1990; 265:2244-56
20. Mead DA, Pey NK, Herrnstadt C, Marcil RA, Smith CM: A universal method for the direct cloning of PCR amplified nucleic acid. Biotechnology 1991; 9:657-63
21. Krivosic-Horber R, Krivosic I: Myopathie à axe central (central core disease) associée à une sensibilité à l'hyperthermie maligne. Presse Méd 1989; 18:828-31
22. Britt AB: Combined anesthetic-and stress-induced malignant hyperthermia susceptibility parents. Anesth Analg 1988: 67:393-9
23. Nelson TE, Lin M: Abnormal function of porcine malignant hyperthermia calcium release channel in the absence and presence of halothane. Cell Physiol Biochem 1995; 5:10-22
24. Pauli RM: Dominance and homozygosity in man. Am J Med Genet 1983; 16:455-9
25. Deufel T, Muller-Felber W, Pongratz DE, Hubner G, Johnson K, Iaizzo PA, Lehmann-Horn F: Chronic myopathy in a patient suspected of carrying two malignant hyperthermia susceptibility (MHS) mutations. Neuromuscul Disord 1992; 2:389-96