English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/168487
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:
Title

Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders

AuthorsBastida, J. M.; Rey, Mónica del; Lozano, Maria Luisa; Sarasquete, María Eugenia; Benito, Rocío; Fontecha, M. E.; Fisac, R.; García-Frade, L. J.; Aguilar, Carlos; Martínez, M. P.; Pardal, Emilia; Aguilera-Sanz, C.; Pérez, B.; Ramos, Rafael; Cardesa, M. R.; Martin-Antorán, J. M.; Silvestre, L. A.; Cebeira, M. J.; Bermejo, Nuria; Riesco, Susana; Mendoza, M. C.; García-Sanz, Ramón; González, Marcos ; Hernández, Jesús M. ; González-Porras, José R.
KeywordsHaemophilia
Inherited coagulation factor deficiencies
Inherited rare bleeding disorders
Molecular diagnosis
Next-generation sequencing
Fibrinogen disorders
Issue Date2016
PublisherJohn Wiley & Sons
CitationHaemophilia 22(4): 590-597 (2016)
Abstract[Introduction]: Molecular testing of Inherited bleeding coagulation disorders (IBCDs) not only offers confirmation of diagnosis but also aids in genetic counselling, prenatal diagnosis and in certain cases genotype–phenotype correlations are important for predicting the clinical course of the disease and to allow tailor-made follow-up of individuals. Until recently, genotyping has been mainly performed by Sanger sequencing, a technique known to be time consuming and expensive. Currently, next-generation sequencing (NGS) offers a new potential approach that enables the simultaneous investigation of multiple genes at manageable cost. [Aim]: The aim of this study was to design and to analyse the applicability of a 23-gene NGS panel in the molecular diagnosis of patients with IBCDs. [Methods]: A custom target enrichment library was designed to capture 31 genes known to be associated with IBCDs. Probes were generated for 296 targets to cover 86.3 kb regions (all exons and flanking regions) of these genes. Twenty patients with an IBCDs phenotype were studied using NGS technology. [Results]: In all patients, our NGS approach detected causative mutations. Twenty-one pathogenic variants were found; while most of them were missense (18), three deletions were also identified. Six novel mutations affecting F8, FGA, F11, F10 and VWF genes, and 15 previously reported variants were detected. NGS and Sanger sequencing were 100% concordant. Conclusion: Our results demonstrate that this approach could be an accurate, reproducible and reliable tool in the rapid genetic diagnosis of IBCDs.
URIhttp://hdl.handle.net/10261/168487
Identifiersdoi: 10.1111/hae.12908
e-issn: 1365-2516
issn: 1351-8216
Appears in Collections:(IBMCC) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 

Related articles:


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.