Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
Distrofia muscular de Becker con duplicación en el exón 5del gen DMD
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Sánchez, A. I., Mariño, N., Araujo, A. F., & Espinosa, E. (2019). Distrofia muscular de Becker con duplicación en el exón 5del gen DMD. Revista Repertorio De Medicina Y Cirugía, 28(2). https://doi.org/10.31260/RepertMedCir.v28.n2.2019.920
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Esta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-CompartirIgual 4.0.
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Las distrofinopatías son un grupo de enfermedades ligadas al cromosoma X que abarcan diferentes entidades, siendo las más importantes la distrofia muscular de Duchenne (DMD) y la de Becker (DMB). Están causadas por mutaciones en el gen de la distrofina (gen DMD) localizado en el cromosoma X, locus Xp21.1. En relación con el tipo de mutaciones reportadas en el gen DMD, las delecciones y las mutaciones puntuales son las más comunes, mientras que las duplicaciones corresponden a 10-12%. Aunque las duplicaciones que abarcan el exón 5 ya han sido reportadas en la literatura, a la fecha no existen informes de casos que establezcan una relación genotipo fenotipo clara. Presentamos el caso de un paciente con distrofia muscular de Becker con un fenotipo no tan severo, en quien se encontró una duplicación en el exón 5. Con este caso pretendemos profundizar en la relación genotipo-fenotipo de la DMB, reportando las características clínicas en relación con la duplicación del exón 5 encontrada.
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2. Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. American journal of human genetics. 1995;56(1):151-7.
3. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology. 2003;2(12):731-40.
4. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology. 2010;9(1):77-93. doi: 10.1016/S1474-4422(09)70271-6.
5. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. The New England journal of medicine. 1988;318(21):1363-8. doi: 10.1056/NEJM198805263182104
6. Essex C, Roper H. Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay. BMJ. 2001;323(7303):37-8.
7. Bushby KM, Gardner-Medwin D, Nicholson LV, Johnson MA, Haggerty ID, Cleghorn NJ, et al. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. Journal of neurology. 1993;240(2):105-12.
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9. Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Microarray-based mutation detection in the dystrophin gene. Human mutation. 2008;29(9):1091-9. doi: 10.1002/humu.20831.
10. Stockley TL, Akber S, Bulgin N, Ray PN. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genetic testing. 2006;10(4):229-43. doi: 10.1089/gte.2006.10.229.
11. Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Human genetics. 2005;117(1):92-8. doi: 10.1007/s00439-005-1270-7.
12. Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics. 2005;6(1):29-35. doi: 10.1007/s10048-004-0204-1.
13. Hamed SA, Hoffman EP. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection. American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2006;141B(1):44-50. doi: 10.1002/ajmg.b.30234.
14. Nicholson LV, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta neuropathologica. 1990;80(3):239-50.
15. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988;2(1):90-5.
16. 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. doi: 10.1002/mus.20586.
17. Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottam M, et al. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. J Clin Neurol. 2017;13(1):91-7. doi: 10.3988/jcn.2017.13.1.91.
18. Yang J, Li SY, Li YQ, Cao JQ, Feng SW, Wang YY, et al. MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. BMC medical genetics. 2013;14:29. doi: 10.1186/1471-2350-14-29.
19. Guo R, Zhu G, Zhu H, Ma R, Peng Y, Liang D, et al. DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. Journal of human genetics. 2015;60(8):435-42. doi: 10.1038/jhg.2015.43.
20. Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Human mutation. 2009;30(12):1657-66. doi: 10.1002/humu.21114.
21. Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, Baena M, Verdura E, Nascimento A, et al. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PloS one. 2015;10(8):e0135189. doi: 10.1371/journal.pone.0135189.
22. Hu XY, Ray PN, Worton RG. Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. The EMBO journal. 1991;10(9):2471-7.
23. White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, et al. Duplications in the DMD gene. Human mutation. 2006;27(9):938-45. doi: 10.1002/humu.20367.
24. Tay SK, Ong HT, Low PS. Transaminitis in Duchenne's muscular dystrophy. Annals of the Academy of Medicine, Singapore. 2000;29(6):719-22.
25. Rinaldi C, Wood MJA. Antisense oligonucleotides: the next frontier for treatment of neurological disorders. Nature reviews Neurology. 2018;14(1):9-21. doi: 10.1038/nrneurol.2017.148.
26. Nelson CE, Robinson-Hamm JN, Gersbach CA. Genome engineering: a new approach to gene therapy for neuromuscular disorders. Nature reviews Neurology. 2017;13(11):647-61. doi: 10.1038/nrneurol.2017.126.
27. Lattanzi A, Duguez S, Moiani A, Izmiryan A, Barbon E, Martin S, et al. Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System. Molecular therapy Nucleic acids. 2017;7:11-9. doi: 10.1016/j.omtn.2017.02.004.
28. Mah JK. An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy. Methods Mol Biol. 2018;1687:3-17. doi: 10.1007/978-1-4939-7374-3_1.
29. McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101):1489-98. doi: 10.1016/S0140-6736(17)31611-2.
30. Yilmaz O, Karaduman A, Topaloglu H. Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis. European journal of neurology. 2004;11(8):541-4. doi: 10.1111/j.1468-1331.2004.00866.x.
31. Bell JM, Shields MD, Watters J, Hamilton A, Beringer T, Elliott M, et al. Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy. The Cochrane database of systematic reviews. 2017;1:CD010899. doi: 10.1002/14651858.CD010899.pub2.
2. Muntoni F, Melis MA, Ganau A, Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. American journal of human genetics. 1995;56(1):151-7.
3. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. The Lancet Neurology. 2003;2(12):731-40.
4. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. The Lancet Neurology. 2010;9(1):77-93. doi: 10.1016/S1474-4422(09)70271-6.
5. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. The New England journal of medicine. 1988;318(21):1363-8. doi: 10.1056/NEJM198805263182104
6. Essex C, Roper H. Lesson of the week: late diagnosis of Duchenne's muscular dystrophy presenting as global developmental delay. BMJ. 2001;323(7303):37-8.
7. Bushby KM, Gardner-Medwin D, Nicholson LV, Johnson MA, Haggerty ID, Cleghorn NJ, et al. The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. II. Correlation of phenotype with genetic and protein abnormalities. Journal of neurology. 1993;240(2):105-12.
8. Ministerio de Salud y Protección Social, Departamento Administrativo de Ciencia Tecnología e Innovación - Colciencias. Guía de práctica clínica, para la detección temprana, atención integral, seguimiento y rehabilitación de pacientes con diagnóstico de distrofia muscular. Guía No. 37. Bogotá: Ministerio de Salud y Protección Social; 2015. p. 694.
9. Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME. Microarray-based mutation detection in the dystrophin gene. Human mutation. 2008;29(9):1091-9. doi: 10.1002/humu.20831.
10. Stockley TL, Akber S, Bulgin N, Ray PN. Strategy for comprehensive molecular testing for Duchenne and Becker muscular dystrophies. Genetic testing. 2006;10(4):229-43. doi: 10.1089/gte.2006.10.229.
11. Gatta V, Scarciolla O, Gaspari AR, Palka C, De Angelis MV, Di Muzio A, et al. Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA). Human genetics. 2005;117(1):92-8. doi: 10.1007/s00439-005-1270-7.
12. Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls. Neurogenetics. 2005;6(1):29-35. doi: 10.1007/s10048-004-0204-1.
13. Hamed SA, Hoffman EP. Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection. American journal of medical genetics Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. 2006;141B(1):44-50. doi: 10.1002/ajmg.b.30234.
14. Nicholson LV, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB. Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta neuropathologica. 1990;80(3):239-50.
15. Monaco AP, Bertelson CJ, Liechti-Gallati S, Moser H, Kunkel LM. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics. 1988;2(1):90-5.
16. 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. doi: 10.1002/mus.20586.
17. Vengalil S, Preethish-Kumar V, Polavarapu K, Mahadevappa M, Sekar D, Purushottam M, et al. Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Confirmed by Multiplex Ligation-Dependent Probe Amplification: Genotype-Phenotype Correlation in a Large Cohort. J Clin Neurol. 2017;13(1):91-7. doi: 10.3988/jcn.2017.13.1.91.
18. Yang J, Li SY, Li YQ, Cao JQ, Feng SW, Wang YY, et al. MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD. BMC medical genetics. 2013;14:29. doi: 10.1186/1471-2350-14-29.
19. Guo R, Zhu G, Zhu H, Ma R, Peng Y, Liang D, et al. DMD mutation spectrum analysis in 613 Chinese patients with dystrophinopathy. Journal of human genetics. 2015;60(8):435-42. doi: 10.1038/jhg.2015.43.
20. Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, et al. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort. Human mutation. 2009;30(12):1657-66. doi: 10.1002/humu.21114.
21. Juan-Mateu J, Gonzalez-Quereda L, Rodriguez MJ, Baena M, Verdura E, Nascimento A, et al. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PloS one. 2015;10(8):e0135189. doi: 10.1371/journal.pone.0135189.
22. Hu XY, Ray PN, Worton RG. Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. The EMBO journal. 1991;10(9):2471-7.
23. White SJ, Aartsma-Rus A, Flanigan KM, Weiss RB, Kneppers AL, Lalic T, et al. Duplications in the DMD gene. Human mutation. 2006;27(9):938-45. doi: 10.1002/humu.20367.
24. Tay SK, Ong HT, Low PS. Transaminitis in Duchenne's muscular dystrophy. Annals of the Academy of Medicine, Singapore. 2000;29(6):719-22.
25. Rinaldi C, Wood MJA. Antisense oligonucleotides: the next frontier for treatment of neurological disorders. Nature reviews Neurology. 2018;14(1):9-21. doi: 10.1038/nrneurol.2017.148.
26. Nelson CE, Robinson-Hamm JN, Gersbach CA. Genome engineering: a new approach to gene therapy for neuromuscular disorders. Nature reviews Neurology. 2017;13(11):647-61. doi: 10.1038/nrneurol.2017.126.
27. Lattanzi A, Duguez S, Moiani A, Izmiryan A, Barbon E, Martin S, et al. Correction of the Exon 2 Duplication in DMD Myoblasts by a Single CRISPR/Cas9 System. Molecular therapy Nucleic acids. 2017;7:11-9. doi: 10.1016/j.omtn.2017.02.004.
28. Mah JK. An Overview of Recent Therapeutics Advances for Duchenne Muscular Dystrophy. Methods Mol Biol. 2018;1687:3-17. doi: 10.1007/978-1-4939-7374-3_1.
29. McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N, et al. Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet. 2017;390(10101):1489-98. doi: 10.1016/S0140-6736(17)31611-2.
30. Yilmaz O, Karaduman A, Topaloglu H. Prednisolone therapy in Duchenne muscular dystrophy prolongs ambulation and prevents scoliosis. European journal of neurology. 2004;11(8):541-4. doi: 10.1111/j.1468-1331.2004.00866.x.
31. Bell JM, Shields MD, Watters J, Hamilton A, Beringer T, Elliott M, et al. Interventions to prevent and treat corticosteroid-induced osteoporosis and prevent osteoporotic fractures in Duchenne muscular dystrophy. The Cochrane database of systematic reviews. 2017;1:CD010899. doi: 10.1002/14651858.CD010899.pub2.
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