Genetic profile of Brazilian patients with dystrophinopathies

P. A.D. de Almeida, M. C. Machado-Costa, G. N. Manzoli, L. S. Ferreira, M. C.S. Rodrigues, L. S.M. Bueno, J. A.M. Saute, Filippo Pinto e Vairo, U. S. Matte, M. Siebert, S. L. Cossio, G. S. Macedo, P. B. Winckler, M. M. Becker, L. V.B. Magalhães, M. V.M. Gonçalves, C. D. Marrone, A. Nucci, M. C. França

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Different types of mutations in the DMD gene underlie Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD). Large deletions and duplications are the most frequent causative genetic alterations worldwide, but little is known about DMD/BMD genetic profile in Brazil. Hence, we recruited patients with DMD and BMD from 8 neuromuscular reference centers along the country, and performed a comprehensive molecular investigation that included Multiplex Ligation-dependent Probe Amplification and Next generation sequencing (NGS) analyses. We evaluated 199 patients from 177 unrelated families: 166 with DMD, 32 with BMD and 1 1.5 years old asymptomatic patient with persistent hiperCKemia. Overall, large deletions (58.2%) followed by nonsense mutations (12.4%) and large duplications (11.3%) were the most frequent variants in Brazilian families. Large deletions were less frequent in BMD than in DMD (44.8% vs 60.8%). We identified 19 new DMD variants. Nonsense mutations were significantly more frequent in patients from northeastern region than from southern/southeastern regions of Brazil (27.7% vs 8.5%, P <.05). Genetic profile of Brazilian patients with DMD/BMD is similar to previously reported cohorts, but it is not uniform across the country. This information is important to plan rational clinical care for patients in face of the new coming mutation-specific therapies.

Original languageEnglish (US)
Pages (from-to)199-203
Number of pages5
JournalClinical Genetics
Volume92
Issue number2
DOIs
StatePublished - Aug 1 2017
Externally publishedYes

Fingerprint

Duchenne Muscular Dystrophy
Nonsense Codon
Brazil
Mutation
Multiplex Polymerase Chain Reaction
Patient Care

Keywords

  • Becker muscular dystrophy
  • DNA sequencing
  • Duchenne muscular dystrophy
  • MLPA
  • mutation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

de Almeida, P. A. D., Machado-Costa, M. C., Manzoli, G. N., Ferreira, L. S., Rodrigues, M. C. S., Bueno, L. S. M., ... França, M. C. (2017). Genetic profile of Brazilian patients with dystrophinopathies. Clinical Genetics, 92(2), 199-203. https://doi.org/10.1111/cge.12975

Genetic profile of Brazilian patients with dystrophinopathies. / de Almeida, P. A.D.; Machado-Costa, M. C.; Manzoli, G. N.; Ferreira, L. S.; Rodrigues, M. C.S.; Bueno, L. S.M.; Saute, J. A.M.; Pinto e Vairo, Filippo; Matte, U. S.; Siebert, M.; Cossio, S. L.; Macedo, G. S.; Winckler, P. B.; Becker, M. M.; Magalhães, L. V.B.; Gonçalves, M. V.M.; Marrone, C. D.; Nucci, A.; França, M. C.

In: Clinical Genetics, Vol. 92, No. 2, 01.08.2017, p. 199-203.

Research output: Contribution to journalArticle

de Almeida, PAD, Machado-Costa, MC, Manzoli, GN, Ferreira, LS, Rodrigues, MCS, Bueno, LSM, Saute, JAM, Pinto e Vairo, F, Matte, US, Siebert, M, Cossio, SL, Macedo, GS, Winckler, PB, Becker, MM, Magalhães, LVB, Gonçalves, MVM, Marrone, CD, Nucci, A & França, MC 2017, 'Genetic profile of Brazilian patients with dystrophinopathies', Clinical Genetics, vol. 92, no. 2, pp. 199-203. https://doi.org/10.1111/cge.12975
de Almeida PAD, Machado-Costa MC, Manzoli GN, Ferreira LS, Rodrigues MCS, Bueno LSM et al. Genetic profile of Brazilian patients with dystrophinopathies. Clinical Genetics. 2017 Aug 1;92(2):199-203. https://doi.org/10.1111/cge.12975
de Almeida, P. A.D. ; Machado-Costa, M. C. ; Manzoli, G. N. ; Ferreira, L. S. ; Rodrigues, M. C.S. ; Bueno, L. S.M. ; Saute, J. A.M. ; Pinto e Vairo, Filippo ; Matte, U. S. ; Siebert, M. ; Cossio, S. L. ; Macedo, G. S. ; Winckler, P. B. ; Becker, M. M. ; Magalhães, L. V.B. ; Gonçalves, M. V.M. ; Marrone, C. D. ; Nucci, A. ; França, M. C. / Genetic profile of Brazilian patients with dystrophinopathies. In: Clinical Genetics. 2017 ; Vol. 92, No. 2. pp. 199-203.
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AU - Gonçalves, M. V.M.

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