Novel LMNA mutations cause an aggressive atypical neonatal progeria without progerin accumulation.
Puente, D. A.
Hennekam, R. C.
De Sandre-Giovannoli, A.
JournalJournal of medical genetics
RightsArchived with thanks to Journal of Medical Genetics
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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.