Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: Genotype-phenotype correlation

American Journal of Human Genetics

Volumn 62, Issue 3, 1998, Pages 599-609

  Manning, Bernadette M ^a   Quane, Kathleen A ^a   Ording, Helle ^b   Urwyler, Albert ^c   Tegazzin, Vincenzo ^d   Lehane, Mary ^e   O'Halloran, John ^a   Hartung, Edmund ^f   Giblin, Linda M ^a   Lynch, Patrick J ^a   Vaughan, Pat ^a   Censier, Kathrin ^c   Bendixen, Diana ^b   Comi, Giacomo ^g   Heytens, Luc ^h   Monsieurs, Koen ^h,i   Fagerlund, Tore ^j   Wolz, Werner ^k   Heffron, James J A ^a   Muller, Clemens R ^k   McCarthy, Tommie V ^a   more..

^a UNIVERSITY COLLEGE CORK   (Ireland)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

^d Traumatologic orthopaedic Hospital   (Italy)

^e University College Cork and INFANT Centre   (Ireland)

^f UNIVERSITY OF WÜRZBURG   (Germany)

^g UNIVERSITY OF MILAN   (Italy)

^h UNIVERSITY OF ANTWERP   (Belgium)

ⁱ UNIVERSITY OF ANTWERP   (Belgium)

^j ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

^k UNIVERSITY OF WÜRZBURG   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

RYANODINE RECEPTOR;

ADULT; ARTICLE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MALE; MALIGNANT HYPERTHERMIA; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 17344368549     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301748     Document Type: Article

References (41)

1. 2+ release channel (ryanodine receptor) of rabbit skeletal muscle sarcoplasmic reticulum in COS-1 cells. Biochemistry 32:3743-3753
2. Chomczynski P, Sacchi N (1987) Single step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
3. Denborough MA, Foster JFA, Lovell RRH, Maplestone DA, Villiers JD (1962) Anaesthetic deaths in a family. Br J Anaesth 34:395-396
4. Deufel T, Sudbrak R, Feist Y, Rübsam B, Du Chesne I, Schäfer K-L, Roewer N, et al (1995) 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 C1840T transition in the RYR1 gene. Am J Hum Genet 56:1334-1342
5. Ellis FR, Harriman DGF (1973) A new screening test for susceptibility to malignant hyperpyrexia. Br J Anaesth 45:638
6. Ellis FR, Heffron JJA (1985) Clinical and biochemical aspects of malignant hyperthermia. In: Atkinson RS, Adams AP (eds) Recent advances in anaesthesia and analgesia. No. 15. Churchill-Livingstone, New York, pp 173-207
7. European Malignant Hyperthermia Group (1984) A protocol for investigation of malignant hyperpyrexia susceptibility. Br J Anaesth 56:1267-1271
8. Gillard EF, Ostu K, Fujii J, Duff C, De Leon S, Khanna VK, Britt BA, et al (1992) Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics 13:1247-1254
9. Gillard EF, Ostu K, Fujii J, Khanna VK, De Leon S, Derdemez J, Britt BA, et al (1991) A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics 11:751-755
10. Gronert GA (1986) Malignant hyperthermia. In: Engel AG, Banker BQ (eds) Myology. Vol 2. McGraw-Hill, New York, pp 1763-1784
11. Hayashi K, Miller RG, Brownell AKW (1989) Central core disease: ultrastructure of the sarcoplasmic reticulum and t-tubules. Muscle Nerve 12:95-102
12. Iles DE, Lehmann-Horn F, Scherer SW, Tsui L-C, Weghuis DO, Suijkerbuijk RF, Heytens L, et al (1994) Localisation of the gene encoding the α2/d-subunits of the L-type voltage-dependent calcium channel to chromosome 7q and analysis of the segregation of flanking markers in malignant hyperthermia susceptible families. Hum Mol Genet 3:969-975
13. Kalow W (1987) Inheritance of malignant hyperthermia: a review of published data. In: Britt BA (ed) Malignant hyperthermia. Martinus-Nijhoff, Amsterdam, pp 155-179
14. Kalow W, Britt BA, Terreau ME, Haist C (1970) Metabolic error of muscle metabolism after recovery from malignant hyperthermia. Lancet 2:895-898
15. Keating KE, Giblin LM, Lynch PJ, Quane KA, Lehane M, Heffron JJAH, McCarthy TV (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 nonaffected haplotypes. J Med Genet 34:291-296
16. Keating KE, Quane KA, Manning BM, Heffron JJA, Lehane M, Hartung E, Urwyler A, et al (1994) Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees. Hum Mol Genet 3:1855-1858
17. Levitt RC, Olckers A, Meyers S, Fletcher JE, Rosenberg H, Isaacs H, Meyers DA (1992) Evidence for the localisation of a malignant hyperthermia susceptibility locus (MHS 2) to human chromosome 17q. Genomics 14:562-566
18. Lynch PJ, Krivosic-Horber R, Reyford H, Monnier N, Quane KA, Adnet P, Haudecoeur G, et al (1997) Identification of heterozygous and homozygous individuals with a novel RYR1 mutation in a large kindred. Anesthesiology 86: 620-626
19. MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, et al (1990) The ryanodine receptor gene: a candidate gene for the predisposition to malignant hyperthermia. Nature 343:559-561
20. MacLennan DH, Phillips MS (1992) Malignant hyperthermia. Science 256:789-794
21. McCarthy TV, Healy JMS, Heffron JJA, Lehane M, Deufel T, Lehmann-Horn F, Farrall M, et al (1990) Localisation of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 343:562-564
22. Manning BM, Quane KA, Lynch PJ, Urwyler A, Tegazzin V, Krivosic-Horber R, et al (1998) Novel mutations at a CpG dinucleotide in the rayanodine receptor in malignant hyperthermia. Hum Mutat 11:45-51
23. Monnier N, Procaccio V, Stieglitz P, Lunardi J (1997) Malignant-hyperthermia susceptibility is associated with a mutation of the α1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 60:1316-1325
24. O'Driscoll S, McCarthy TV, Eichinger HM, Erhardt W, Lehmann-Horn F, Hermann-Frank A (1996) Calmodulin sensitivity of the sarcoplasmic reticulum ryanodine receptor from normal and malignant hyperthermia susceptible muscle. Biochem J 319:421-426
25. Orita M, Suzuki Y, Sekiya T, Hayashi K (1989) Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5: 874-879
26. Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, Dejong PJ, MacLennan DH (1996) The structural organisation of the skeletal muscle ryanodine receptor (RYR1) gene. Genomics 34:24-41
27. Phillips MS, Khanna VK, De Leon S, Frodis W, Britt BA, MacLennan DH (1994) The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. Hum Mol Genet 3: 2181-2186
28. Quane KA, Healy JMS, Keating KE, Manning BM, Couch FJ, Palmucci LM, Doriguzzi C, et al (1993) Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 5:51-55
29. Quane KA, Keating KE, Healy JMS, Manning BM, Krivosic-Horber R, Krivosic I, Monnier N, et al (1994a) 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
30. Quane KA, Keating KE, Manning BM, Healy JMS, Monsieurs K, Heffron JJA, Lehane M, et al (1994b) Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies. Hum Mol Genet 3:471-476
31. Quane KA, Ording H, Keating KE, Manning BM, Heine R, Bendixen D, Berg K, et al (1997) Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia. Br J Anaesth 3:332-337
32. Robinson RL, Monnier N, Wolz W, Jung M, Reis A, Nuernberg G, Curran JL, et al (1997) A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees. Hum Mol Genet 6:953-961
33. Ryan BF, Joiner BL, Ryan TA (1985) Minitab. Duxbury, Boston
34. Shuaib A, Paasuke RT, Brownell AKW (1987) Central core disease: clinical features in 13 patients. Medicine 66: 389-396
35. Shy GM, Magee KR (1956) A new congenital non-progressive myopathy. Brain 79:610-621
36. Sudbrak R, Procaccio V, Klausnitzer M, Curran JL, Monsieurs K, Van Broeckhoven C, Ellis R, et al (1995) Mapping of a further malignant hyperthermia susceptibility locus to chromosome 3q13.1. Am J Hum Genet 56:684-691
37. Suko J, Maurer-Fogy I, Plank B, Bertel O, Wyskovsky W, Hoehenegger M, Hellmann G (1993) Phosphorylation of serine 2843 in ryanodine receptor-calcium release channel of skeletal muscle cAMP, cGMP and CaM dependant protein kinase. Biochim Biophys Acta 1175:193-206
38. Tegazzin V, Accorsi A, Gritti G, Arcelli L, Di Giovanni A (1994) MH fulminant reaction after eight anaesthetics: a case report. Minerva Anesthesiol 60:217-219
39. Urwyler A, Censier K, Kauffmann M, Drewe J (1994) Genetic effects on the variability of the halothane and caffeine muscle contracture tests. Anesthesiology 80:1287-1295
40. Zhang Y, Chen HS, Khanna VK, De Leon S, Philips M, Schappert K, Britt BA, et al (1993) A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 5:46-49
41. 2+ release channel (ryanodine receptor) of sarcoplasmic reticulum. J Biol Chem 265:2244-2256