Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Author
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.
Date
2016-06-22Journal
Journal of medical geneticsType
Journal ArticlePublisher
BMJDOI
10.1136/jmedgenet-2015-103695Rights
Archived with thanks to Journal of Medical GeneticsMetadata
Show full item recordAbstract
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.