A New Mutation in the Skeletal Ryanodine Receptor Gene (RYR1) Is Potentially Causative of Malignant Hyperthermia, Central Core Disease, and Severe Skeletal Malformation

American Journal of Medical Genetics

Volumn 124 A, Issue 3, 2004, Pages 248-254

  Rueffert, Henrik ^a   Olthoff, Derk ^a   Deutrich, Christine ^a   Schober, Ralf ^a   Froster, Ursula G ^a  

^a UNIVERSITY OF LEIPZIG   (Germany)

Author keywords

Central core disease; Jarcho Levin syndrome; Malignant hyperthermia; MH susceptibility; Mutation; RYR1

Indexed keywords

RYANODINE RECEPTOR;

ADOLESCENT; AMINO ACID SUBSTITUTION; ANESTHESIA COMPLICATION; ARTICLE; CASE REPORT; CENTRAL CORD SYNDROME; CLINICAL FEATURE; DIAGNOSTIC TEST; DIAPHRAGM HERNIA; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENERAL ANESTHESIA; GENETIC SUSCEPTIBILITY; HUMAN; JARCHO LEVIN SYNDROME; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEURAL TUBE DEFECT; PHENOTYPE; PRIORITY JOURNAL; RYR1 GENE; SEQUENCE ANALYSIS; SKELETON MALFORMATION; SPINE FUSION;

EID: 0347753520     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20404     Document Type: Article

References (36)

1. Barone V, Massa O, Intravaia E, Bracco A, Di Martino A, Tegazzin V, Cozzolino S, Sorrentino V. 1999. Mutation screening of RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families. J Med Genet 36:115-118.
2. Brownell AK. 1988. Malignant hyperthermia: Relationship to other diseases. Br J Anaesth 60:303-308.
3. Bulman MP, Kusumi K, Frayling TM, McKeown C, Garrett C, Lander ES, Krumlauf R, Hattersley AT, Ellard S, Turnpenny PD. 2000. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet 24:438-441.
4. Censier K, Urwyler A, Zorzato F, Treves S. 1998. Intracellular calcium homeostasis in human primary muscle cells from malignant hyperthermia-susceptible and normal individuals: Effect of overexpression of recombinant wild-type and Arg163Cys mutated ryanodine receptors. J Clin Invest 101:1233-1242.
5. Denborough MA, Dennett X, Anderson RM. 1973. Central-core disease and malignant hyperpyrexia. Br Med J 1:272-273.
6. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. 1996. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380(6570):112-115.
7. Dubowitz V, Pearse AGE. 1960. Central core disease of muscle with focal wasting. J Neurol Neurosurg Psychiatr 28:432-437.
8. European Malignant Hyperthermia Group. 1984. A protocol for the investigation of malignant hyperpyrexia (MH) susceptibility. Br J Anaesth 56:1267-1269.
9. Ferreiro A, Estournet B, Chateau D, Romero NB, Laroche C, Odent S, Toutain A, Cabello A, Fontan D, dos Santos HG, Haenggeli CA, Bertini E, Urtizberea JA, Guicheney P, Fardeau M. 2000. Multi-mimicore disease-Searching for boundaries: Phenotype analysis of 38 cases. Ann Neurol 48:745-757.
10. Frank JP, Harati Y, Butler IJ, Nelson TE, Scott CI. 1980. Central core disease and malignant hyperthermia syndrome. Ann Neurol 7:11-17.
11. Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, Britt BA, Duff CL, Worton RG, MacLennan DH. 1991. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics 11:751-755.
12. Haan EA, Freemantle CJ, McCure JA, Friend KL, Mulley JC. 1990. Assignment of the gene for central core disease to chromosome 19. Hum Genet 86:187-190.
13. Jarcho S, Levin PM. 1938. Hereditary malformation of the vertebral bodies. Bull Johns Hopkins Hosp 62:216-226.
14. Kalow W. 1987. Inheritance of malignant hyperthermia: A review of published data. In: Britt BA, editor. Malignant hyperthermia. Amsterdam: Martinus-Nijhoff. pp 155-179.
15. Kalow W, Britt BA, Terreau ME, Haist C. 1970. Metabolic error of muscle metabolism, after recovery from malignant hyperthermia. Lancet 2:894-898.
16. Kausch K, Lehmann-Horn F, Janka M, Wieringa B, Grimm T, Muller CR. 1991. Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19. Genomics 10:765-769.
17. 2+ release channel function and severe central core disease. Proc Natl Acad Sci USA 96:4164-4169.
18. MacLennan DH, Duff C, Zorzato F, Fujii J, Phillips M, Korneluk RG, Frodis W, Britt A, Worton RG. 1990. Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature 343:559-561.
19. Manning BM, Quane KA, Ording H, Urwyler A, Tegazzin V, Lehane M, O'Halloran J, Hartung E, Giblin LM, Lynch PJ, Vaughan P, Censier K, Bendixen D, Comi G, Heytens L, Monsieurs K, Fagerlund T, Wolz W, Heffron JJA, Muller CR, McCarthy TV. 1998. Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: Genotype-phenotype correlation. Am J Hum Genet 62: 599-609.
20. McCarthy TV, Healy JMS, Heffron JJA, Lehane M, Deufel T, Lehmann-Horn F, Farrall M, Johnson K. 1990. Localization of the malignant hyperthermia susceptibility locus to human chromosome 19q12-13.2. Nature 343:562-564.
21. McCarthy TV, Quane KA, Lynch PJ. 2000. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 15(5):410-417.
22. Mortier GR, Lachman RS, Bocian M, Rimoin DL. 1996. Multiple vertebral segmentation defects: Analysis of 26 new patients and review of the literature. Am J Med Genet 61:310-319.
23. Ording H, European Malignant Hyperthermia Group. 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. Acta Anaesthesiol Scand 41:955-966.
24. Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, De Jong PJ, MacLennan DH. 1996. The structural organisation of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics 34:24-41.
25. 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. 1993. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia. Nat Genet 5:51-55.
26. Romero NB, Nivoche Y, Lunardi J, Bruneau B, Cheval MA, Hillaire D, Fardeau M. 1993. Malignant hyperthermia and central core disease: Analysis of two families with heterogeneous clinical expression. Neuromusc Disord 5:547-551.
27. Sambuughin N, McWilliams S, deBantel A, Sivakamar K, Nelson TE. 2001. Single-amino-acid deletion in ryr1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype. Am J Hum Genet 69(1):204-208.
28. Shuaib A, Paasuke RT, Brownell KW. 1987. Central core disease. Clinical features in 13 patients. J Comp Path 97:597-600.
29. 2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with hyperthermia and/or central core disease. J Biol Chem 272:26332-26339.
30. 2+ release channels. J Biol Chem 274:693-702.
31. 2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia. Biochem J 301:661-665.
32. Turnpenny PD, Bulman MP, Frayling TM, Abu-Nasra TK, Garrett C, Hattersley AT, Ellard S. 1999. A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3. Am J Hum Genet 65:175-182.
33. Urwyler A, Deufel T, McCarthy T, West S. 2001. Guidelines for molecular genetic detection of susceptibility to malignant hyperthermia. Br J Anaesth 86:283-287.
34. Wehner M, Rueffert H, Koenig F, Neuhaus J, Olthoff D. 2002a. Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation. Clin Genet 62:135-146.
35. Wehner M, Rueffert H, Koenig F, Meinecke CD, Olthoff D. 2003. Association of the ryanodine receptor 1 Ile2453Thr with a facilitated calcium release from sarcoplasmic reticulum by 4-chloro-m-cresol in human myotubes. Cell Calcium 34:163-168.
36. Zhang Y, Chen HS, Khanna VK, De Leon S, Phillips MS, Schappert K, Britt BA, Brownell AKW, MacLennan DH. 1993. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 5:46-50.