Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.

2.50
Hdl Handle:
http://hdl.handle.net/11287/615365
Title:
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Authors:
Soria-Valles, C.; Carrero, D.; Gabau, E.; Velasco, G.; Quesada, V.; Bárcena, C.; Moens, M.; Fieggen, K.; Möhrcken, S.; Owens, Martina; Puente, D. A.; Asensio, Ó.; Loeys, B.; Pérez, A.; Benoit, V.; Wuyts, W.; Lévy, N.; Hennekam, R. C.; De Sandre-Giovannoli, A.; López-Otín, C.
Abstract:
Progeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope alterations. In this work, we describe a novel phenotypic feature of the progeria spectrum affecting three unrelated newborns and identify its genetic cause.
Citation:
Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation. 2016: J. Med. Genet.
Publisher:
BMJ
Journal:
Journal of medical genetics
Issue Date:
22-Jun-2016
URI:
http://hdl.handle.net/11287/615365
DOI:
10.1136/jmedgenet-2015-103695
PubMed ID:
27334370
Additional Links:
http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=27334370
Type:
Journal Article
Language:
en
ISSN:
1468-6244
Appears in Collections:
Molecular Genetics; 2016 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorSoria-Valles, C.en
dc.contributor.authorCarrero, D.en
dc.contributor.authorGabau, E.en
dc.contributor.authorVelasco, G.en
dc.contributor.authorQuesada, V.en
dc.contributor.authorBárcena, C.en
dc.contributor.authorMoens, M.en
dc.contributor.authorFieggen, K.en
dc.contributor.authorMöhrcken, S.en
dc.contributor.authorOwens, Martinaen
dc.contributor.authorPuente, D. A.en
dc.contributor.authorAsensio, Ó.en
dc.contributor.authorLoeys, B.en
dc.contributor.authorPérez, A.en
dc.contributor.authorBenoit, V.en
dc.contributor.authorWuyts, W.en
dc.contributor.authorLévy, N.en
dc.contributor.authorHennekam, R. C.en
dc.contributor.authorDe Sandre-Giovannoli, A.en
dc.contributor.authorLópez-Otín, C.en
dc.date.accessioned2016-07-01T11:40:47Z-
dc.date.available2016-07-01T11:40:47Z-
dc.date.issued2016-06-22-
dc.identifier.citationNovel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation. 2016: J. Med. Genet.en
dc.identifier.issn1468-6244-
dc.identifier.pmid27334370-
dc.identifier.doi10.1136/jmedgenet-2015-103695-
dc.identifier.urihttp://hdl.handle.net/11287/615365-
dc.description.abstractProgeroid syndromes are genetic disorders that recapitulate some phenotypes of physiological ageing. Classical progerias, such as Hutchinson-Gilford progeria syndrome (HGPS), are generally caused by mutations in LMNA leading to accumulation of the toxic protein progerin and consequently, to nuclear envelope alterations. In this work, we describe a novel phenotypic feature of the progeria spectrum affecting three unrelated newborns and identify its genetic cause.en
dc.languageENG-
dc.language.isoenen
dc.publisherBMJen
dc.relation.urlhttp://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=27334370en
dc.rightsArchived with thanks to Journal of Medical Geneticsen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleNovel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.en
dc.typeJournal Articleen
dc.identifier.journalJournal of medical geneticsen
dc.type.versionIn press (epub ahead of print)en

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