New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

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dc.contributor.author Moreau-Le Lan, Sarah
dc.contributor.author Aller, Elena
dc.contributor.author Calabria, Ines
dc.contributor.author Gonzalez-Tarancon, Lola
dc.contributor.author Cardona-Gay, Cristina
dc.contributor.author Martinez-Matilla, Marina
dc.contributor.author Aparisi, Maria J.
dc.contributor.author Selles, Jorge
dc.contributor.author Sagath, Lydia
dc.contributor.author Pitarch, Inmaculada
dc.contributor.author Muelas, Nuria
dc.contributor.author Cervera, Jose V.
dc.contributor.author Millan, Jose M.
dc.contributor.author Pedrola, Laia
dc.date.accessioned 2019-01-02T14:00:01Z
dc.date.available 2019-01-02T14:00:01Z
dc.date.issued 2018-12-05
dc.identifier.citation Moreau-Le Lan , S , Aller , E , Calabria , I , Gonzalez-Tarancon , L , Cardona-Gay , C , Martinez-Matilla , M , Aparisi , M J , Selles , J , Sagath , L , Pitarch , I , Muelas , N , Cervera , J V , Millan , J M & Pedrola , L 2018 , ' New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy ' , PLoS One , vol. 13 , no. 12 , 0207296 . https://doi.org/10.1371/journal.pone.0207296
dc.identifier.other PURE: 120626627
dc.identifier.other PURE UUID: 17531396-7307-4a7a-a9ac-84ec5bec7576
dc.identifier.other WOS: 000452212400029
dc.identifier.other Scopus: 85058013353
dc.identifier.other ORCID: /0000-0002-6754-3830/work/52399954
dc.identifier.uri http://hdl.handle.net/10138/285188
dc.description.abstract Nemaline Myopathy (NM) is a rare genetic disorder that encompasses a large spectrum of myopathies characterized by hypotonia and generalized muscle weakness. To date, mutations in thirteen different genes have been associated with NM. The most frequently responsible genes are NEB (50% of cases) and ACTA1 (15-25% of cases). In this report all known NM related genes were screened by Next Generation Sequencing in five Spanish patients in order to genetically confirm the clinical and histological diagnosis of NM. Four mutations in NEB (c.17779_17780delTA, c.11086A>C, c.21076C>T and c.2310+5G>A) and one mutation in ACTA1 (c.871A>T) were found in four patients. Three of the four mutations in NEB were novel. A cDNA sequencing assay of the nove/variants c.17779_17780delTA, c.11086A>C and c.2310+5G>A revealed that the intronic variant c.2310+5G>A affected the splicing process. Mutations reported here could help clinicians and geneticists in NM diagnosis. en
dc.format.extent 12
dc.language.iso eng
dc.relation.ispartof PLoS One
dc.rights cc_by
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject NEBULIN
dc.subject VARIANTS
dc.subject 3121 General medicine, internal medicine and other clinical medicine
dc.title New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy en
dc.type Article
dc.contributor.organization Biosciences
dc.contributor.organization Department of Medical and Clinical Genetics
dc.contributor.organization Medicum
dc.contributor.organization University of Helsinki
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1371/journal.pone.0207296
dc.relation.issn 1932-6203
dc.rights.accesslevel openAccess
dc.type.version publishedVersion

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