King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Neuromuscular Disorders

Volumn 21, Issue 6, 2011, Pages 420-427

  Dowling, James J ^a   Lillis, Suzanne ^b   Amburgey, Kimberley ^a   Zhou, Haiyan ^c   Al Sarraj, Safa ^d   Buk, Stefan J A ^d   Wraige, Elizabeth ^e   Chow, Gabby ^f   Abbs, Stephen ^b   Leber, Steven ^a   Lachlan, Katherine ^g   Baralle, Diana ^g   Taylor, Alexandra ^h,i   Sewry, Caroline ^c   Muntoni, Francesco ^c   Jungbluth, Heinz ^d,e  

^a Division of Pediatric Neurology   (United States)

^b GUY S HOSPITAL   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^f QUEEN S MEDICAL CENTRE   (United Kingdom)

^g UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^h SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

ⁱ PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

Author keywords

Central core disease; Congenital myopathies; King Denborough syndrome; Malignant hyperthermia susceptibility (MHS); Skeletal muscle ryanodine receptor (RYR1) gene

Indexed keywords

RYANODINE RECEPTOR 1;

ADOLESCENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BODY DYSMORPHIC DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; FACE DYSMORPHIA; FALLING; FEMALE; GAIT DISORDER; GENE; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; HYPERTELORISM; IMMUNOHISTOCHEMISTRY; JOINT LAXITY; KING DENBOROUGH SYNDROME; KYPHOSCOLIOSIS; MALE; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MOTOR DEVELOPMENT; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; ORCHIDOPEXY; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RYR1 GENE; SCHOOL CHILD; SCOLIOSIS; SHORT STATURE; SPINE FUSION; WEBBED NECK;

ADOLESCENT; BIOPSY; CHILD; FEMALE; HUMANS; MALE; MALIGNANT HYPERTHERMIA; MICROSCOPY, ELECTRON; MUSCLE, SKELETAL; MUTATION, MISSENSE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 79956088503     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.03.006     Document Type: Article

References (31)

1. King J.O., Denborough M.A. Anesthetic-induced malignant hyperpyrexia in children. J Pediatr 1973, 83:37-40.
2. Graham G.E., Silver K., Arlet V., Der Kaloustian V.M. King syndrome: further clinical variability and review of the literature. Am J Med Genet 1998, 78:254-259.
3. Rueffert H., Olthoff D., Deutrich C., Schober R., Froster U.G. A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation. Am J Med Genet A 2004, 124A(3):248-254.
4. Pinsky L. The XX-XY Turner phenotype and malignant hyperthermia. Lancet 1972, 2(7773):383.
5. Hunter A., Pinsky L. An evaluation of the possible association of malignant hyperpyrexia with the Noonan syndrome using serum creatine phosphokinase levels. J Pediatr 1975, 86:412-415.
6. Rissam H.S., Mittal S.R., Wahi P.L., Bidwal P.S. Postoperative hyperpyrexia in a case of Noonan's syndrome. Indian Heart J 1982, 34:180-182.
7. Isaacs H., Badenhorst M.E. Dominantly inherited malignant hyperthermia (MH) in the King-Denborough syndrome. Muscle Nerve 1992, 15:740-742.
8. Reed U.C., Resende M.B., Ferreira L.G., et al. King-Denborough syndrome: report of two Brazilian cases. Arq Neuropsiquiatr 2002, 60(3-B):739-741.
9. Kousseff B.G., Nichols P. A new autosomal recessive syndrome with Noonan-like phenotype, myopathy with congenital contractures and malignant hyperthermia. Birth Defects Orig Artic Ser 1985, 21(2):111-117.
10. Robinson L.K., O'Brien N.C., Puckett M.C., Cox M.A. Multiple pterygium syndrome: a case complicated by malignant hyperthermia. Clin Genet 1987, 32:5-9.
11. Froster-Iskenius U.G., Waterson J.R., Hall J.G. A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. J Med Genet 1988, 25:104-112.
12. D'Arcy C.E., Bjorksten A., Yiu E.M., et al. King-Denborough syndrome caused by a novel mutation in the ryanodine receptor gene. Neurology 2008, 71:776-777.
13. Gillard E.F., Otsu K., Fujii J., et al. Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics 1992, 13:1247-1254.
14. Zhang Y., Chen H.S., Khanna V.K., et al. A mutation in the human ryanodine receptor gene associated with central core disease. Nat Genet 1993, 5(1):46-50.
15. Jungbluth H., Zhou H., Hartley L., et al. Minicore myopathy with opthalmoplegia caused by mutations in the ryanodine receptor type 1 gene. Neurology 2005, 65(12):1930-1935.
16. Wilmshurst J.M., Lillis S., Zhou H., et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010, 68(5):717-726.
17. Brandt A., Schleithoff L., Jurkat-Rott K., Klingler W., Baur C., Lehmann-Horn F. Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test. Hum Mol Genet 1999, 8(11):2055-2062.
18. Yeh H., Tsai M.C., Su Y.N., et al. Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C). Anesth Analg 2005, 101:1401-1406.
19. Shepherd S., Ellis F., Halsall J., Hopkins P., Robinson R. RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet 2004, 41(3):e33.
20. McCarthy T.V., Quane K.A., Lynch P.J. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000, 15(5):410-417.
21. Davis M.R., Haan E., Jungbluth H., et al. Principal mutation hotspot for central core disease and related myopathies in the c-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord 2003, 13(2):151-157.
22. Wu S., Ibarra M.C., Malicdan M.C., et al. Central core disease is due to RYR1 mutations in more than 90% of patients. Brain 2006, 129(Pt. 6):1470-1480.
23. Monnier N., Laquerrière A., Marret S., et al. First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. Neuromuscul Disord 2009, 19(10):680-684.
24. Chitayat D., Hodgkinson K.A., Ginsburg O., Dimmick J., Watters G.V. King syndrome: a genetically heterogenous phenotype due to congenial myopathies. Am J Med Genet 1992, 43:954-956.
25. Jorge A.A., Malaquias A.C., Arnhold I.J., Mendonca B.B. Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res 2009, 71(4):185-193.
26. Stamm D.S., Powell C.M., Stajich J.M., et al. Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. Neurology 2008, 71(22):1764-1769.
27. Kaindl A.M., Ruschendorf F., Krause S., et al. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 2004, 41(11):842-848.
28. Fananapazir L., Dalakas M.C., Cyran F., Cohn G., Epstein N.D. Missense mutations in the β-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 1993, 90:3993-3997.
29. Romero N.B., Herasse M., Monnier N., et al. Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus. Acta Myol 2005, 24(2):70-73.
30. Gamble J.G., Rinsky L.A., Lee J.H. Orthopaedic aspects of central core disease. J Bone Joint Surg 1988, 70A:1061-1066.
31. Airey J.A., Baring M.D., Beck C.F., et al. Failure to make normal alpha ryanodine receptor is an early event associated with the crooked neck dwarf (cn) mutation in chicken. Dev Dyn 1993, 197(3):169-188.