A population-based study of dystrophin mutations in Canada

Canadian Journal of Neurological Sciences

Volumn 38, Issue 3, 2011, Pages 465-474

  Mah, Jean ^a,n   Selby, Kathryn ^c   Campbell, Craig ⁱ   Nadeau, Amelie ^g   Tarnopolsky, Mark ^h   McCormick, Anna ^j   Dooley, Joseph ^d   Kolski, Hanna ^b   Skalsky, Andrew ^e   Smith, R ^m   Buckley, David ^f   Ray, Peter ^l   Yoon, Grace ^k  

^a UNIVERSITY OF CALGARY   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

^c UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^d DALHOUSIE UNIVERSITY   (Canada)

^e UNIVERSITY OF MANITOBA   (Canada)

^f MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^g UNIVERSITY OF MONTREAL   (Canada)

^h MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

ⁱ UNIVERSITY OF WESTERN ONTARIO   (Canada)

^j CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^k UNIVERSITY OF TORONTO   (Canada)

^l HOSPITAL FOR SICK CHILDREN   (Canada)

^m QUEEN S UNIVERSITY   (Canada)

ⁿ ALBERTA CHILDREN'S HOSPITAL   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN;

ARTICLE; CANADA; DIAGNOSTIC PROCEDURE; DYSTROPHINOPATHY; EXON; FEMALE; FOLLOW UP; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HEALTH CARE ORGANIZATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; POINT MUTATION; POPULATION RESEARCH; PRIORITY JOURNAL;

EID: 79955499720     PISSN: 03171671     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0317167100011896     Document Type: Article

References (29)

1. Emery AE. Population frequencies of inherited neuromuscular diseases-a world survey. Neuromuscul Disord. 1991;1(1):19-29.
2. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987; 51(6):919-28.
3. Koenig M, Monaco AP, Kunkel LM. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell. 1988;53(2):219-28.
4. Laing NG. Molecular genetics and genetic counselling for Duchenne/Becker muscular dystrophy. In: Partridge TA, editor. Molecular and cell biology of muscular dystrophy. London: Chapman & Hall; 1993. p. 37-84.
5. Aartsma-Rus A, Van Deutekom JC, Fokkema IF, Van Ommen GJ, Den Dunnen JT. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule. Muscle Nerve. 2006;34(2):135-44. (Pubitemid 44167796)
6. White SJ, den Dunnen JT. Copy number variation in the genome; the human DMD gene as an example. Cytogenet Genome Res. 2006;115(3-4):240-6. (Pubitemid 44832026)
7. Bradley D, Parson E. Newborn screening for Duchenne muscular dystrophy. Semin Neonatol. 1998;3:27-34. (Pubitemid 28328280)
8. Dooley J, Gordon KE, Dodds L, MacSween J. Duchenne muscular dystrophy: a 30-year population-based incidence study. Clin Pediatr (Phila). 2010;49(2):177-9.
9. Centers for Disease Control and Prevention (CDC). Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years -four states, 2007. MMWR Morb Mortal Wkly Rep. 2009; 58(40):1119-22.
10. Gillard EF, Chamberlain JS, Murphy EG, et al. Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet. 1989;45(4):507-20. (Pubitemid 19261438)
11. Stockley TL, Akber S, Bulgin N, Ray PN. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genet Test. 2006;10(4):229-43. (Pubitemid 46193273)
12. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003;2(12):731-40. (Pubitemid 37443515)
13. Yan J, Feng J, Buzin CH, et al. Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat. 2004;23(2):203-4. (Pubitemid 38200611)
14. Chamberlain JS, Gibbs RA, Ranier JE, Nguyen PN, Caskey CT. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988;16 (23):11141-56. (Pubitemid 19008461)
15. Towbin JA, Chamberlain JS, Wu DR, Pillers DA, Seltzer WK, McCabe ER. DXS28 (C7) maps centromeric to DXS68 (L1-4) and DXS67 (B24) by deletion analysis. Genomics. 1990;7(3): 442-4. (Pubitemid 20307381)
16. Beggs AH, Koenig M, Boyce FM, Kunkel LM. Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet. 1990;86(1):45-8.
17. Feener CA, Boyce FM, Kunkel LM. Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene. Am J Hum Genet. 1991;48(3):621-7. (Pubitemid 21903061)
18. White S, Kalf M, Liu Q, et al. Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet. 2002;71(2): 365-74. (Pubitemid 34800252)
19. Schouten JP, McElgunn CJ,Waaijer R, Zwijnenburg D, Diepvens F, Pals G. Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 2002;30(12):e57.
20. Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Microarray-based mutation detection in the dystrophin gene. Hum Mutat. 2008;29(9):1091-9.
21. Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010;9(1):77-93.
22. Baskin B, Banwell B, Khater RA, Hawkins C, Ray PN. Becker muscular dystrophy caused by an intronic mutation reducing the efficiency of the splice donor site of intron 26 of the dystrophin gene. Neuromuscul Disord. 2009;19(3):189-92.
23. Takeshima Y, Yagi M, Okizuka Y, et al. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet. 2010;55 (6):379-88.
24. McMillan HJ, Campbell C, Mah JK. Duchenne muscular dystrophy: Canadian paediatric neuromuscular physicians survey. Can J Neurol Sci. 2010;37(2):195-205.
25. Cunniff C, Andrews J, Meaney FJ, et al. Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy. J Child Neurol. 2009;24(4):425-30.
26. Welch EM, Barton ER, Zhuo J, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature. 2007;447 (7140):87-91. (Pubitemid 46685839)
27. Malik V, Rodino-Klapac LR, Viollet L, et al. Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy. Ann Neurol. 2010;67(6):771-80.
28. Muntoni F, Bushby K, van Ommen G. 128th ENMC international workshop on preclinical optimization and phase I/II clinical trials using antisense oligonucleotides in Duchenne muscular dystrophy, 22-24 October 2004, Naarden, the Netherlands. Neuromuscul Disord. 2005;15(6):450-7.
29. van Deutekom JC, Janson AA, Ginjaar IB, et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N Engl J Med. 2007;357(26):2677-86.