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

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http://hdl.handle.net/10138/285188

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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

Titel: New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy
Författare: Moreau-Le Lan, Sarah; Aller, Elena; Calabria, Ines; Gonzalez-Tarancon, Lola; Cardona-Gay, Cristina; Martinez-Matilla, Marina; Aparisi, Maria J.; Selles, Jorge; Sagath, Lydia; Pitarch, Inmaculada; Muelas, Nuria; Cervera, Jose V.; Millan, Jose M.; Pedrola, Laia
Upphovmannens organisation: Biosciences
Department of Medical and Clinical Genetics
Medicum
University of Helsinki
Datum: 2018-12-05
Språk: eng
Sidantal: 12
Tillhör serie: PLoS One
ISSN: 1932-6203
DOI: https://doi.org/10.1371/journal.pone.0207296
Permanenta länken (URI): http://hdl.handle.net/10138/285188
Abstrakt: 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.
Subject: NEBULIN
VARIANTS
3121 General medicine, internal medicine and other clinical medicine
Referentgranskad: Ja
Licens: cc_by
Användningsbegränsning: openAccess
Parallelpublicerad version: publishedVersion


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