Portal de investigación
Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases
Fecha de publicación:
Fecha Ahead of Print:
Autores de IIS La Fe
Participantes ajenos a IIS La Fe
- Vieitez, I
- Gallano, P
- Gonzalez-Quereda, L
- Borrego, S
- Marcos, I
- Prior, C
- Molano, J
- Trujillo-Tiebas, MJ
- Gallego-Merlo, J
- Garcia-Barcina, M
- Fenollar, M
- Navarro, C
Grupos
Abstract
Introduction: Duchenne muscular dystrophy (DMD) is a severe x-linked recessive neuromuscular disease that affects one in 3500 live-born males. The total absence of dystrophin observed in DMD patients is generally caused by mutations that disrupt the reading frame of the DMD gene, and about 80% of cases harbour deletions or duplications of one or more exons. Methods: We reviewed 284 cases of males with a genetic diagnosis of DMD between 2007 and 2014. These patients were selected from 8 Spanish reference hospitals representing most areas of Spain. Multiplex PCR, MLPA, and sequencing were performed to identify mutations. Results: Most of these DMD patients present large deletions (46.1%) or large duplications (19.7%) in the dystrophin gene. The remaining 34.2% correspond to point mutations, and half of these correspond to nonsense mutations. In this study we identified 23 new mutations in DMD: 7 large deletions and 16 point mutations. Conclusions: The algorithm for genetic diagnosis applied by the participating centres is the most appropriate for genotyping patients with DMD. The genetic specificity of different therapies currently being developed emphasises the importance of identifying the mutation appearing in each patient; 38.7% of the cases in this series are eligible to participate in current clinical trials. (C) 2016 Sociedad Espanola de Neurologia. Published by Elsevier Espana, S.L.U.
Datos de la publicación
- ISSN/ISSNe:
- 0213-4853, 1578-1968
- Tipo:
- Article
- Páginas:
- 377-385
- PubMed:
- 26968818
- Factor de Impacto:
- 0,534 SCImago ℠
- Cuartil:
- Q2 SCImago ℠
NEUROLOGIA ELSEVIER DOYMA SL
Citas Recibidas en Web of Science: 25
Documentos
- No hay documentos
Filiaciones
Keywords
- Duchenne muscular dystrophy; Mutational analysis; Multiplex ligation-dependent probe amplification; Sequencing; Genetic diagnosis
Campos de Estudio
Cita
Vieitez I,Gallano P,Gonzalez L,Borrego S,Marcos I,MILLAN JM,JAIRO T,Prior C,Molano J,Trujillo MJ,Gallego J,Garcia M,Fenollar M,Navarro C. Mutational spectrum of Duchenne muscular dystrophy in Spain: Study of 284 cases. Neurologia. 2017. 32. (6):p. 377-385. IF:1,938. (3).