Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: Novel mutations and concordance with the in vitro contracture test

Human Molecular Genetics

Volumn 8, Issue 11, 1999, Pages 2055-2062

  Brandt, Annebill ^a   Schleithoff, Lothar ^a   Jurkat Rott, Karin ^a   Klingler, Werner ^a   Baur, Christoph ^a   Lehmann Horn, Frank ^a  

^a UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

RYANODINE RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC TEST; GENETIC SCREENING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALIGNANT HYPERTHERMIA; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE;

ADULT; AMINO ACID SUBSTITUTION; CHILD; CODON; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENE FREQUENCY; GENETIC SCREENING; GENOTYPE; GERMANY; HUMANS; LINKAGE (GENETICS); MALE; MALIGNANT HYPERTHERMIA; MUSCLE CONTRACTION; MUSCLE PROTEINS; MYOPATHY, CENTRAL CORE; PEDIGREE; PHENOTYPE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SENSITIVITY AND SPECIFICITY;

EID: 0032869137     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.11.2055     Document Type: Article

References (33)

1. Iaizzo, P.A., Klein, W. and Lehmann-Horn, F. (1988) Flura-2 detected myoplasmic calcium and its correlation with contracture force in skeletal muscle from normal and malignant hyperthermia susceptible pigs. Pflügers Arch, 411, 648-653.
2. Ellis, F.R. and Heffron, J.J.A. (1985) In Atkinson, R.S. and Adams, A.P. (eds), Recent Advances in Anaesthesia and Analgesia. Churchill-Livingstone, New York, NY, pp. 173-207.
3. Gronert, G.A. (1994) Malignant hyperthermia. In Engel, A.G. and Franzini-Armstrong, C. (eds), Myology. 2nd edn. McGraw-Hill, New York, NY, pp. 1661-1678.
4. Larach, M.G., Localio, A.R., Allen, G.C., Denborough, M.A., Ellis, F.R., Gronert, G.A., Kaplan, R.F., Muldoon, S.M., Nelson, T.E. and Ording, H., (1994) A clinical grading scale to predict malignant hyperthermia susceptibility. Anesthesiology, 80, 771-779.
5. European Malignant Hyperprexia Group (1984) A protocol for the investigation of malignant hyperprexia (MH) susceptibility. Br. J. Anaesth., 56, 1267-1269.
6. Ording, H., Brancadoro, V., Cozzolino, S., Ellis, F.R., Glauber, V., Gonano, E.F., Halsall, P.J., Hartung, E., Heffron, J.J., Heytens, L., Kozak-Ribbens, G., Kress, H., Krivosic-Horber, R., Lehmann-Horn, F., Mortier, W., Nivoche, Y., Ranklev-Twetman, E., Sigurdsson, S., Snoeck, M., Stieglitz, P., Tegazzin, V., Urwyler, A. and Wappler, F.H. (1997) In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group. Acta Anaesth. Scand., 41, 955-966.
7. McCarthy, T.V., Healy, J.M.S., Lehane, M., Heffron, J.J.A., Deufel, T., Lehmann-Horn, F., Farrall, M. and Johnson, K. (1990) Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q11.2-13.2. Nature, 343, 562-563.
8. MacLennan, D.H., Duff, C., Zorzato, F., Fujii, J., Phillips, M., Korneluk, R.G., Frodis, W., Britt, B.A. and Worton, R.G. (1990) Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature, 343, 559-561.
9. Phillips, M., Fujii, J., Khanna, V.K., DeLeon, S., Yokobata, K., De Jong, P.J. and MacLennan, D. (1996) The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics, 34, 24-41.
10. 2+ release channels. Am. J. Med., 104, 470-486.
11. Monnier, N., Procaccio, V., Stieglitz, P. and Lunardi, J. (1997) Malignant-hyperthermia susceptibility is associated with a mutation of the a 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am. J. Hum. Genet., 60, 1316-1325.
12. Wappler, F., Scholz, J., von Richthofen, V., Fiege, M., Kochling, A., Matschke, J., Winkler, G. and Schulte am Esch, J. (1998) Incidence of disposition for malignant hyperthermia in patients with neuromuscular diseases. Anaesth. Intensivmed. Notfallmed. Schmerzther, 33, 373-380.
13. Barone, V., Massa, O., Intravaia, E., Bracco, A., DiMartino, A., Tegazzin, V., Cozzolino, S. and Sorrentino, V. (1999) Mutation screening of the RYR1 gene and identification of two novel mutations in Italian Malignant Hypothermia families. J. Med. Genet., 36, 115-118.
14. Manning, B.M., Quane, K.A., Ording, H., Urwyler, A., Tegazzin, V., Lehane, M., O'Halloran, J., Hartung, E., Giblin, L.M., Lynch, P.J., Vaughan, P., Censier, K., Bendixen, D., Comi, G., Heytens, L., Monsieurs, K., Fagerlund, T., Wolz, W., Heffron, J.J., Muller, C.R. and McCarthy, T.V. (1998) Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation. Am. J. Hum. Genet., 62, 599-609.
15. Fagerlund, T., Ording, H., Bendixen, D., Islander, G., Ranklev-Twetman, E. and Berg, K. (1996) RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility. Clin. Genet., 49, 186-198.
16. 2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J. Biol. Chem., 272, 26332-26339.
17. Struk, A., Lehmann-Horn, F. and Melzer, W. (1998) Voltage-dependent calcium release in malignant hyperthermia muscle fibers. Biophysical J., 75, 2402-2410.
18. Censier, K., Urwyler, A., Zorzato, F. and Treves, S. (1998) Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals. J. Clin. Invest., 101, 1233-1242.
19. Richter, M., Schleithoff, L., Deufel, T., Lehmann-Horn, F. and Herrmann-Frank, A. (1997) Functional characterization of a distinct ryanodine receptor mutation in human malignant hyperthermia-susceptible muscle. J. Biol. Chem., 272, 5256-5260.
20. Sanger, F., Nicklen, S. and Coulson, A.R. (1977) DNA sequencing with chain-terminating inhibitors. Proc. Natl Acad. Sci. USA, 74, 5463-5467.
21. Lathrop, G.M. and Lalouel, J.M. (1984) Easy calculations of lod scores and genetic risks on small computers. Am. J. Hum. Genet., 36, 460-465.
22. Lynch, P.J., Krivosic-Horber, R., Reyford, H., Monnier, N., Quane, K.A., Adnet, P., Haudecoeur, G., Krivosic, I., McCarthy, T. and Lunardi, J. (1997) Identification of heterozygous and homozygous individuals with a novel RYR1 mutation in a large kindred. Anesthesiology, 86, 620-626.
23. Quane, K.A., Healy, J.M.S., Keating, K.E., Manning, B.M., Couch, F.J., Palmucci, L.M., Doriguzzi, C., Fagerlun, T.H., Berg, K., Ording, H., Bendixen, D., Mortier, W., Linz, U., Müller, C.R. and McCarthy, T.V. (1993) Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nature Genet., 5, 51-55.
24. Gillard, E.F., Otsu, K., Fujii, J., Duff, C., DeLeon, S., Khanna, V.K., Britt, B.A., Worton, R.G. and MacLennan, D.H. (1992) Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene and individuals with malignant hyperthermia. Genomics, 13, 1247-1254.
25. Aleström, A., Fagerlund, T.H. and Berg, K. (1995) A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. Clin. Genet., 47, 274-275.
26. Quane, K.A., Keating, K.E., Manning, B.M., Healy, J.M.S., Monsieurs, K., Heffron, J., Lehane, M., Heytens, L., Krivosic-Horber, R., Adnet, P., Ellis, F.R., Monnier, N., Lunnardi, J. and McCarthy, T.V. (1994) Detection of a novel mutation in a ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum. Mol. Genet., 3, 471-416.
27. Quane, K.A., Keating, K.E., Healy, J.M.S., Manning, B.M., Krivosic-Horber, R., Krivosic, I., Monnier, N., Lunardi, J. and McCarthy, T.V. (1994) 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, 23, 236-239.
28. Keating, K.E., Giblin, L., Lynch, P.J., Quane, K.A., Lehane, M., Heffron, J.J.A. and McCarthy, T.V. (1997) Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes. J. Med. Genet., 34, 291-296.
29. Gillard, E.F., Otsu, K., Fujii, J., Khanna, V.K., DeLeon, S., Derdemezi, J., Britt, B.A., Duff, C.L., Worton, R.G. and MacLennan, D.H. (1991) A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics, 11, 751-755.
30. Quane, K.A., Ording, H., Keating, K.E., Manning, B.M., Heine, R., Bendixen, D., Berg, K., Krivosic-Horber, R., Lehmann-Horn, F., Fagerlund, T. and McCarthy, T.V. (1997) Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. Br. J. Anaesth., 79, 332-337.
31. Keating, K.E., Quane, K.A., Manning, B.M., Lehane, M., Hartung, E., Censier, K., Urwyler, A., Klausnitzer, M., Müller, C.R., Heffron, J.J.A. and McCarthy, T.V. (1994) Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum. Mol. Genet., 10, 1855-1858.
32. Zhang, Y., Chen, H.S., Khanna, V.K., DeLeon, S., Phillips, M.S., Schappert, K., Britt, B.A., Brownell, A.K.W. and MacLennan, D.H. (1993) A mutation in the human ryanodine receptor gene asoociated with central core diseases. Nature Genet., 5, 46-49.
33. Manning, B.M., Quane, K.A., Lynch, P.J., Urwyler, A., Tegazzin, V., Krivosic-Horber, R., Censier, K., Comi, G., Adnet, P., Wolz, W., Lunardi, J., Muller, C.R. and McCarthy, T.V. (1998) Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia. Hum. Mutat., 11, 45-50.