Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation

PLoS ONE

Volumn 8, Issue 7, 2013, Pages

  Attali, Ruben ^a   Aharoni, Sharon ^b   Treves, Susan ^c   Rokach, Ori ^c   Becker Cohen, Michal ^a   Fellig, Yakov ^a   Straussberg, Rachel ^b   Dor, Talya ^a   Daana, Muhannad ^a   Mitrani Rosenbaum, Stella ^a   Nevo, Yoram ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^c UNIVERSITY HOSPITAL BASEL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

1,4 DIHYDROPYRIDINE RECEPTOR; DHPR ALPHA 1.1; RYANODINE RECEPTOR 1; UNCLASSIFIED DRUG;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 19Q; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DOWN REGULATION; EXON; FEMALE; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC MARKER; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; MYOPATHY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RYR1 GENE; SCHOOL CHILD; SCOLIOSIS; SEQUENCE ANALYSIS; WESTERN BLOTTING;

EID: 84880843264     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0069296     Document Type: Article

References (36)

1. North K, (2008) What's new in congenital myopathies? Neuromuscular Disorders 18: 433-442.
2. North K, (2011) Clinical Approach to the Diagnosis of Congenital Myopathies. Semin Pediatr Neurol 18: 216-220.
3. Klein A, Lillis S, Munteanu I, Scoto M, Zhou H, et al. (2012) Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat 33(6): 981-988.
4. MacLennan DH, Zorzato F, Fujii J, et al. (1989) Cloning and localization of the human calcium release channel (ryanodine receptor) gene to the proximal long arm (cen-q13.2) of human chromosome 19. Am J Hum Genet 45 (suppl.): A205.
5. Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, et al. (1996) The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics 34(1): 24-41.
6. Ferguson DG, Schwartz HW, Franzini-Armstrong C, (1984) Subunit structure of junctional feet in triads of skeletal muscle: a freeze-drying, rotary-shadowing study. J Cell Biol 99(5): 1735-1742.
7. Lai FA, Erickson HP, Rousseau E, Liu QY, Meissner G, (1988) Purification and reconstitution of the calcium release channel from skeletal muscle. Nature 331(6154): 315-319.
8. Hwang JH, Zorzato F, Clarke NF, Treves S, (2012) Mapping domains and mutations on the skeletal muscle ryanodine receptor channel. Trends Mol Med. 11: 644-657.
9. Zhou H, Jungbluth H, Sewry CA, Feng L, Bertini E, et al. (2007) Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain 130(Pt 8): 2024-2036.
10. Tilgen N, Zorzato F, Halliger-Keller B, Muntoni F, Sewry C, et al. (2001) Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet 10(25): 2879-2887.
11. Girard T, Cavagna D, Padovan E, Spagnoli G, Urwyler A, et al. (2001) B-lymphocytes from malignant hyperthermia-susceptible patients have an increased sensitivity to skeletal muscle ryanodine receptor activators. J Biol Chem 276(51): 48077-48082.
12. Ruschendorf F, Nurnberg P, (2005) ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics 21: 2123-2125.
13. Abecasis GR, Cherny SS, Cookson WO, Cardon LR, (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 30: 97-101.
14. Neitzel H, (1986) A routine method for the establishment of permanent growing lymphoblastoid cell lines. Hum Genet 73(4): 320-326.
15. Delbono O, Xia J, Treves S, Wang ZM, Jimenez-Moreno R, et al. (2007) Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45. Proc Natl Acad Sci USA 104(50): 20108-20113.
16. Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P, (2006) Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat 27(10): 977-989.
17. Treves S, Jungbluth H, Muntoni F, Zorzato F, (2008) Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Curr Opin Pharmacol 8(3): 319-326.
18. Sei Y, Gallagher KL, Basile AS, (1999) Skeletal muscle type ryanodine receptor is involved in calcium signaling in human B lymphocytes. J Biol Chem 274(9): 5995-6002.
19. Monnier N, Marty I, Faure J, Castiglioni C, Desnuelle C, et al. (2008) Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. Hum Mutat 29(5): 670-678.
20. Wilmshurst JM, Lillis S, Zhou H, Pillay K, Henderson H, et al. (2010) RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 68(5): 717-726.
21. Clarke NF, Waddell LB, Cooper ST, Perry M, Smith RL, et al. (2010) Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat 31(7): E1544-1550.
22. Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, et al. (2012) Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol 124(4): 575-581.
23. Sato I, Wu S, Ibarra MC, Hayashi YK, Fujita H, et al. (2008) Congenital neuromuscular disease with uniform type 1 fiber and RYR1 mutation. Neurology 70(2): 114-122.
24. Sewry CA, Müller C, Davis M, Dwyer JS, Dove J, et al. (2002) The spectrum of pathology in central core disease. Neuromuscul Disord 12(10): 930-938.
25. Quinlivan RM, Muller CR, Davis M, Laing NG, Evans GA, et al. (2003) Central core disease: clinical, pathological, and genetic features. Arch Dis Child 88(12): 1051-1055.
26. Treves S, Anderson AA, Ducreux S, Divet A, Bleunven C, et al. (2005) Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord 15(9-10): 577-587.
27. Rossi AE, Dirksen RT, (2006) Sarcoplasmic reticulum: The dynamic calcium governor of muscle. Muscle Nerve 3: 715-731.
28. Lynch PJ, Tong J, Lehane M, Mallet A, Giblin L, et al. (1999) A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease. Proc Natl Acad Sci USA 96: 4164-4169.
29. Zorzato F, Yamaguchi N, Xu L, Meissner G, Müller CR, et al. (2003) Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. Hum Mol Genet 12: 379-388.
30. Dirksen RT, Avila G, (2004) Distinct effects on Ca2+ handling caused by malignant hyperthermia and central core disease mutations in RyR1. Biophys J 87: 3193-3204.
31. Treves S, Larini F, Menegazzi P, Steinberg TH, Koval M, et al. (1994) Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermia. Biochem J 301(Pt 3): 661-665.
32. Otsu K, Nishida K, Kimura Y, Kuzuya T, Hori M, et al. (1994) The point mutation Arg615->Cys in the Ca2+ release channel of skeletal sarcoplasmic reticulum is responsible for hypersensitivity to caffeine and halothane in malignant hyperthermia. J Biol Chem 269(13): 9413-9415.
33. Zhou H, Yamaguchi N, Xu L, Wang Y, Sewry C, et al. (2006) Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet 15: 2791-2803.
34. Monnier N, Ferreiro A, Marty I, Labarre-Vila A, Mezin P, et al. (2003) A homozygous splicing mutation causing a depletion of skeletal muscle RyR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia. Hum Mol Genet 12: 1171-1178.
35. Menegazzi P, Larini F, Treves S, Guerrini R, Quadroni M, et al. (1994) Identification and characterization of three calmodulin binding sites of the skeletal muscle ryanodine receptor. Biochemistry 33(31): 9078-9084.
36. Nakai J, Sekiguchi N, Rando TA, Allen PD, Beam KG, (1998) Two regions of the ryanodine receptor involved in coupling with L-type Ca2+ channels. J Biol Chem. 273(22): 13403-13406.