Failure to identify the ryanodine receptor G1021A mutation in a large North American population with malignant hyperthermia

Clinical Genetics

Volumn 54, Issue 4, 1998, Pages 358-361

  Stewart, Sherri L ^a   Rosenberg, Henry ^b   Fletcher, Jeffrey E ^a  

^a DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

DNA; Genetics; Malignant hyperthermia (MH); MH susceptibility; Mutations; RYR1

Indexed keywords

RYANODINE RECEPTOR;

ARTICLE; CONTROLLED STUDY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALIGNANT HYPERTHERMIA; NORTH AMERICA; POINT MUTATION; POPULATION GENETICS; PRIORITY JOURNAL; RECEPTOR GENE;

DNA; GENETIC SCREENING; HUMANS; INCIDENCE; MALIGNANT HYPERTHERMIA; NORTH AMERICA; POINT MUTATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 0031755763     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.1998.5440417.x     Document Type: Article

References (20)

1. MacLennan DH, Phillips MS. Malignant hyperthermia. Science 1992: 256: 789-794.
2. Gillard EF, Otsu K, Fujii J, Khanna VK, DeLeon S, Derdemez J, Britt BA, Duff CL, Worton RG, MacLennan DH. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics 1991: 11: 751-755.
3. 2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease. J Biol Chem 1997: 272: 26332-26339.
4. 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: 51-55.
5. Larach MG. Standardization of the caffeine halothane muscle contracture test. Anesthesiol Analg 1989: 69: 511-515.
6. Fletcher JE, Rosenberg H. In vitro interaction between halothane and succinylcholine in human skeletal muscle: Implications for malignant hyperthermia and masseter muscle rigidity. Anesthesiology 1985: 63: 190-194.
7. Fletcher JE, Tripolitis L, Hubert M, Vita GM, Levitt RC, Rosenberg H. Genotype and phenotype relationships for mutations in the ryanodine receptor in patients referred for diagnosis of malignant hyperthermia. Br J Anaesthesiol 1995: 75: 307-310.
8. Alien GC, Larach MG, Kunselman AR. The sensitivity and specificity of the caffeine-halothane contracture test. Anesthesiology 1998: 88: 579-588.
9. Fletcher JE, Calvo PA, Rosenberg H. Phenotypes associated with malignant hyperthermia susceptibility in swine genotyped as homozygous or heterozygous for the ryanodine receptor mutation. Br J Anaesthesiol 1993: 71: 410-417.
10. Alestrøm A, Fagerlund TH, Berg K. A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility. Clin Genet 1995: 47: 274-275.
11. Adeokun AM, West SP, Ellis FR, Halsall PJ, Hopkins PM, Foroughmand AM, Iles DE, Robinson RL, Stewart AD, Curran JL. The G1021A substitution in the RYR1 gene does not cosegregate with malignant hyperthermia susceptibility in a British pedigree. Am J Hum Genet 1997: 60: 833-841.
12. Zhang Y, Chen HS, Khanna VK, DeLeon S, Phillips MS, Schappert K, Britt BA, Brownwell KW, MacLennan DH. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet. 1993: 5: 47-49.
13. Fagerlund T, Ørding H, Bendixen D, Berg K. Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia. Clin Genet 1994: 46: 401-404.
14. Wallace AJ, Wooldridgc W, Kingston HM, Harrison MJ, Ellis FR, Ford PM. Malignant hyperthermia - a large kindred linked to the RYR1 gene. Anaesthesia 1996: 51: 16-23.
15. Fagerlund TH, Islander G, Twetman ER, Berg K. A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia. Clin Genet 1995: 48: 12-16.
16. Fagerlund TH, Islander G, Twetman ER, Berg K. Malignant hyperthermia susceptibility, an autosomal dominant disorder? Clin Genet 1997: 51: 365-369.
17. Fagerlund TH, Ørding H, Bendixen D, Islander G, Twetman ER and Berg K. Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation. Clin Genet 1997: 52: 416-421.
18. 1-subunit of the human dihydropyridine-sensitive L-type voltage dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 1997: 60: 1316-1325.
19. 1306-to-alanine mutation in the adult muscle sodium channel α-subunit gene. Anesthesiology 1995: 82: 1097-1103.
20. Moslehi R, Langlois S, Yam I, Friedman JM. Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree. Am J Med Genet 1998: 76: 21-27.