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EMQN best practice guidelines for genetic testing in dystrophinopathies

2020Journal article Open access
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dc.contributor.authorFratter, Carl
dc.contributor.authorDalgleish, Raymond
dc.contributor.authorAllen, Stephanie K.
dc.contributor.authorSantos, Rosário
dc.contributor.authorAbbs, Stephen
dc.contributor.authorTuffery-Giraud, Sylvie
dc.contributor.authorFerlini, Alessandra
dc.date.accessioned2021-11-23T11:01:50Z
dc.date.available2021-11-23T11:01:50Z
dc.date.issued2020
dc.description.abstractDystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability of new personalised drugs have influenced diagnostic genetic testing for dystrophinopathies. Therefore, these European best practice guidelines for genetic testing in dystrophinopathies have been produced to update previous guidelines published in 2010.These guidelines summarise current recommended technologies and methodologies for analysis of the DMD gene, including testing for deletions and duplications of one or more exons, small variant detection and RNA analysis. Genetic testing strategies for diagnosis, carrier testing and prenatal diagnosis (including non-invasive prenatal diagnosis) are then outlined. Guidelines for sequence variant annotation and interpretation are provided, followed by recommendations for reporting results of all categories of testing. Finally, atypical findings (such as non-contiguous deletions and dual DMD variants), implications for personalised medicine and clinical trials and incidental findings (identification of DMD gene variants in patients where a clinical diagnosis of dystrophinopathy has not been considered or suspected) are discussed.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationFratter C, Dalgleish R, Allen SK, et al. EMQN best practice guidelines for genetic testing in dystrophinopathies. Eur J Hum Genet. 2020;28(9):1141-1159. doi:10.1038/s41431-020-0643-7pt_PT
dc.identifier.doi10.1038/s41431-020-0643-7pt_PT
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.urihttp://hdl.handle.net/10400.16/2610
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherNature Publishing Grouppt_PT
dc.relation.publisherversionhttps://www.nature.com/articles/s41431-020-0643-7pt_PT
dc.titleEMQN best practice guidelines for genetic testing in dystrophinopathiespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.conferencePlaceUnited States of Americapt_PT
oaire.citation.endPage1159pt_PT
oaire.citation.issue9pt_PT
oaire.citation.startPage1141pt_PT
oaire.citation.titleEuropean Journal of Human Geneticspt_PT
oaire.citation.volume28pt_PT
person.familyNameSantos
person.givenNameRosário
person.identifier1058137
person.identifier.ciencia-id5717-2E67-9171
person.identifier.orcid0000-0002-8594-6377
person.identifier.scopus-author-id7201375082
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication58235500-e731-4550-b279-a118ae401c61
relation.isAuthorOfPublication.latestForDiscovery58235500-e731-4550-b279-a118ae401c61

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