LMNA mutation in progeroid syndrome in association with strokes
Por:
Gonzalez-Quereda L, Delgadillo V, Juan-Mateu J, Verdura E, Rodriguez MJ, Baiget M, Pineda M and Gallano P
Publicada:
1 nov 2011
Resumen:
Hutchinson-Gilford progeria syndrome is a very rare but
well-characterized genetic disorder that causes premature ageing.
Clinical features affect growth, skeleton, body fat, skin, hair and the
cardiovascular system. It is caused by mutations in LMNA gene, the most
frequent being p. Gly608Gly (c.1824C > T) in exon 11.
Here we present a four-year-old HGPS patient who presented several
severe strokes and carried a heterozygous LMNA missense mutation in exon
2: p.Glu138Lys. This mutation is located far from the C-terminal region
implicated in the posttranslational processing of prelamin A, but it
lies within the rod domain of lamin A/C that represents a highly
conserved domain specific to nuclear lamins. We hypothesize that this
region could be involved in early and severe strokes in HGPS, such as
those presented by our patient. (C) 2011 Elsevier Masson SAS. All rights
reserved.
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