Мышечная дистрофия, связанная с геном DMD, у женщин
https://doi.org/10.17650/2222-8721-2024-14-3-81-89
Аннотация
Дистрофинопатии – спектр Х-сцепленных мышечных заболеваний, связанных с патогенными/вероятно патогенными вариантами в гене дистрофина (DMD). Как правило, заболевание развивается у лиц мужского пола, однако случаи проявления симптомов описаны и у женщин. В обзоре представлены современные данные о проявлениях дистрофинопатий у женщин с патогенными вариантами в гене DMD, причины разной степени выраженности симптомов заболевания у женщин – носительниц патогенных/вероятно патогенных генетических вариантов. Обсуждается значимость поиска мутаций в гене DMD у женщин с симптомами мышечной дистрофии и исследования статуса носительства у родственниц пациентов с мышечной дистрофией Дюшенна/Беккера.
Ключевые слова
дистрофинопатия,
DMD,
Х-инактивация,
кардиомиопатия,
поясно-конечностная мышечная дистрофия,
креатинфосфокиназа
При поддержке: Работа выполнена без спонсорской поддержки.
Об авторах
Е. О. Воронцова
ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»
Россия
Россия
Екатерина Олеговна Воронцова
115522 Москва, ул. Москворечье, 1
Е. В. Зинина
ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»
Россия
Россия
115522 Москва, ул. Москворечье, 1
О. А. Щагина
ФГБНУ «Медико-генетический научный центр им. акад. Н.П. Бочкова»
Россия
Россия
115522 Москва, ул. Москворечье, 1
Список литературы
1. Salari N., Fatahi B., Valipour E. et al. Global prevalence of Duchenne and Becker muscular dystrophy: A systematic review and meta-analysis. J Orthop Surg Res 2022;17:96. DOI: 10.1186/s13018-022-02996-8
2. Keegan N.P. Pseudoexons of the DMD gene. J Neuromuscul Dis 2020;7(2):77–95. DOI: 10.3233/JND-190431
3. Magri F., Govoni A., D’Angelo M.G. et al. Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up. J Neurol 2011;258(9):1610–23. DOI: 10.1007/s00415-011-5979-z
4. Bladen C.L., Salgado D., Monges S. et al. The TREAT-NMD DMD Global Database: Analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat 2015;36(4):395–402. DOI: 10.1002/humu.22758
5. Зинина Е.В., Булах М.В., Рыжкова О.П. и др. Изменение спектра выявленных мутаций в гене DMD в зависимости от методических возможностей лаборатории. Нервно-мышечные болезни 2023;13(1):33–43. DOI: 10.17650/2222-8721-2023-13-1-33-43
6. Nakamura A., Shiba N., Miyazaki D. et al. Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy. J Hum Genet 2017;62(4):459–63. DOI: 10.1038/jhg.2016.152
7. Nakamura A., Fueki N., Shiba N. et al. Deletion of exons 3–9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapy. J Hum Genet 2016;61(7):663–7. DOI: 10.1038/jhg.2016.28
8. Torella A., Zanobio M., Zeuli R. et al. The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene. PLoS One 2020;15(8):e0237803. DOI: 10.1371/journal.pone.0237803
9. Gruber D., Lloyd-Puryear M., Armstrong N. et al. Newborn screening for Duchenne muscular dystrophy-early detection and diagnostic algorithm for female carriers of Duchenne muscular dystrophy. Am J Med Genet C Semin Med Genet 2022;190(2): 197–205. DOI: 10.1002/ajmg.c.32000
10. Soltanzadeh P., Friez M.J., Dunn D. et al. Clinical and genetic characterization of manifesting carriers of DMD mutations. Neuromuscul Disord 2010;20(8):499–504. DOI: 10.1016/j.nmd.2010.05.010
11. Heide S., Afenjar A., Edery P. et al. Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature. Eur J Med Genet 2015;58(6–7):341–5. DOI: 10.1016/j.ejmg.2015.04.003
12. Duan D., Goemans N., Takeda S. et al. Duchenne muscular dystrophy. Nat Rev Dis Primers 2021;7(1):13. DOI: 10.1038/s41572-021-00248-3
13. Demos J., Dreyfus J.C., Schapira F. et al. Biological anomalies in the apparently healthy transmitters of muscular dystrophy. Rev Can Biol 1962;21:587–97.
14. Masárová L., Panovský R., Pešl M. et al. Correction: Myocardial native T1 mapping and extracellular volume quantification in asymptomatic female carriers of Duchenne muscular dystrophy gene mutations. Orphanet J Rare Dis 2023;18(1):331. DOI: 10.1186/s13023-023-02922-z
15. Mercier S., Toutain A., Toussaint A. et al. Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age. Eur J Hum Genet 2013;21(8):855–63. DOI: 10.1038/ejhg.2012.269
16. Ishizaki M., Kobayashi M., Adachi K. et al. Female dystrophinopathy: Review of current literature. Neuromuscul Disord 2018;28(7):572–81. DOI: 10.1016/j.nmd.2018.04.005
17. Hoogerwaard E.M., Bakker E., Ippel P.F. et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: A cohort study. Lancet 1999; 353(9170):2116–9. DOI: 10.1016/s0140-6736(98)10028-4
18. Schade van Westrum S.M., Hoogerwaard E.M., Dekker L. et al. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy. Neurology 2011;77(1):62–6. DOI: 10.1212/WNL.0b013e318221ad14
19. Codd M.B., Sugrue D.D., Gersh B.J. et al. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975–1984. Circulation 1989;80(3):564–72. DOI: 10.1161/01.cir.80.3.564
20. Politano L., Nigro V., Nigro G. et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996;275(17):1335–8.
21. Mccaffrey T., Guglieri M., Murphy A.P. et al. Cardiac involvement in female carriers of Duchenne or Becker muscular dystrophy. Muscle Nerve 2017;55(6):810–8. DOI: 10.1002/mus.25445
22. Richardson P., McKenna W., Bristow M. et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation 1996;93(5):841–2. DOI: 10.1161/01.cir.93.5.841
23. Grain L., Cortina-Borja M., Forfar C. et al. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord 2001;11(2):186–91. DOI: 10.1016/s0960-8966(00)00185-1
24. Walcher T., Steinbach P., Spiess J. et al. Detection of long-term progression of myocardial fibrosis in Duchenne muscular dystrophy in an affected family: A cardiovascular magnetic resonance study. Eur J Radiol 2011;80(1):115–9. DOI: 10.1016/j.ejrad.2010.07.005
25. Tunteeratum A., Witoonpanich R., Phudhichareonrat S. et al. Congestive heart failure with rhabdomyolysis and acute renal failure in a manifesting female carrier of Duchenne muscular dystrophy with duplication of dystrophin gene. J Clin Neuromuscul Dis 2009;11(1):49–53. DOI: 10.1097/CND.0b013e3181adcda7
26. Finsterer J., Stollberger C. Muscle, cardiac, and cerebral manifestations in female carriers of dystrophin variants. J Neurol Sci 2018;388:107, 108. DOI: 10.1016/j.jns.2018.03.015
27. Bushby K., Muntoni F., Bourke J.P. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002, Naarden, the Netherlands. Neuromuscul Disord 2003;13(2):166–72. DOI: 10.1016/s0960-8966(02)00213-4
28. Bourke J., Turner C., Bradlow W. et al. Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations. Open Heart 2022;9(2):e001977. DOI: 10.1136/openhrt-2022-001977
29. Dori A., Scutifero M., Passamano L. et al. Treatment with ataluren of four symptomatic nmDMD carriers. A pilot study. Acta Myol 2024 43(1):8–15. DOI: 10.36185/2532-1900-398
30. D’Ambrosio P., Orsini C., Nigro V. et al. Therapeutic approach with Ataluren in Duchenne symptomatic carriers with nonsense mutations in dystrophin gene. Results of a 9-month follow-up in a case report. Acta Myol 2018;37(4):272–4.
31. Birnkrant D.J., Bushby K., Bann C.M. et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: Respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol 2018;17(4):347–61. DOI: 10.1016/S1474-4422(18)30025-5
32. Quak Z.X., Tan S.M.L., Tan K.B. et al. A manifesting female carrier of Duchenne muscular dystrophy: Importance of genetics for the dystrophinopathies. Singapore Med J 2023;64(1):81–7. DOI: 10.4103/singaporemedj.SMJ-2021-356
33. Arikawa E., Hoffman E.P., Kaido M. et al. The frequency of patients with dystrophin abnormalities in a limb-girdle patient population. Neurology 1991;41(9):1491–6. DOI: 10.1212/wnl.41.9.1491
34. Richards C.S., Watkins S.C., Hoffman E.P. et al. Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet 1990;46(4):672–81.
35. Papa R., Madia F., Bartolomeo D. et al. Genetic and early clinical manifestations of females heterozygous for Duchenne/Becker muscular dystrophy. Pediatr Neurol 2016;55:58–63. DOI: 10.1016/j.pediatrneurol.2015.11.004
36. Viggiano E., Ergoli M., Picillo E. et al. Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy. Hum Genet 2016;135(7):685–98. DOI: 10.1007/s00439-016-1666-6
37. Chelly J., Marlhens F., Le Marec B. et al. De novo DNA microdeletion in a girl with Turner syndrome and Duchenne muscular dystrophy. Hum Genet 1986;74(2):193–6. DOI: 10.1007/BF00282093
38. Tanner S.M., Orstavik K.H., Kristiansen M. et al. Skewed X-inactivation in a manifesting carrier of X-linked myotubular myopathy and in her non-manifesting carrier mother. Hum Genet 1999;104(3):249–53. DOI: 10.1007/s004390050943
39. Verellen-Dumoulin C., Freund M., De Meyer R. et al. Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet 1984;67(1):115–9. DOI: 10.1007/BF00270570
40. Pluta N., von Moers A., Pechmann A. et al. Whole-genome sequencing identified new structural variations in the DMD gene that cause Duchenne muscular dystrophy in two girls. Int J Mol Sci 2023;24(17):13567. DOI: 10.3390/ijms241713567
41. Quan F., Janas J., Toth-Fejel S. et al. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 1997;60(1):160–5.
42. Ou Z., Li S., Li Q. et al. Duchenne muscular dystrophy in a female patient with a karyotype of 46,X,i(X)(q10). Tohoku J Exp Med 2010;222(2):149–53. DOI: 10.1620/tjem.222.149
43. Fujii K., Minami N., Hayashi Y. et al. Homozygous female Becker muscular dystrophy. Am J Med Genet A 2009;149A(5):1052–5. DOI: 10.1002/ajmg.a.32808
44. Katayama Y., Tran V.K., Hoan N.T. et al. Co-occurrence of mutations in both dystrophin and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy. Hum Genet 2006;119(5):516–9. DOI: 10.1007/s00439-006-0159-4
45. Tihy F., Vogt N., Recan D. et al. Skewed inactivation of an X chromosome deleted at the dystrophin gene in an asymptomatic mother and her affected daughter. Hum Genet 1994;93(5):563–7. DOI: 10.1007/BF00202824
46. Giliberto F., Radic C.P., Luce L. et al. Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization. J Neurol Sci 2014;336(1–2):36–41. DOI: 10.1016/j.jns.2013.09.036
47. Sumita D.R., Vainzof M., Campiotto S. et al. Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers. Am J Med Genet 1998;80(4):356–61.
48. Azofeifa J., Voit T., Hübner C. et al. X-chromosome methylation in manifesting and healthy carriers of dystrophinopathies: Concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995;96(2):167–76. DOI: 10.1007/BF00207374
49. Bittel D.C., Theodoro M.F., Kibiryeva N. et al. Comparison of X-chromosome inactivation patterns in multiple tissues from human females. J Med Genet 2008;45(5):309–13. DOI: 10.1136/jmg.2007.055244
50. Matthews P.M., Benjamin D., Van Bakel I. et al. Muscle X-inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord 1995;5(3):209–20. DOI: 10.1016/0960-8966(94)00057-g
Рецензия
Для цитирования:
Воронцова Е.О., Зинина Е.В., Щагина О.А. Мышечная дистрофия, связанная с геном DMD, у женщин. Нервно-мышечные болезни. 2024;14(3):81-89. https://doi.org/10.17650/2222-8721-2024-14-3-81-89
For citation:
Vorontsova E.O., Zinina A.V., Shchagina O.A. Muscular dystrophy associated with the DMD gene in women. Neuromuscular Diseases. 2024;14(3):81-89. (In Russ.) https://doi.org/10.17650/2222-8721-2024-14-3-81-89
Просмотров:
570
Послать статью по эл. почте 