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, 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.
Filiaciones:
Gonzalez-Quereda, L:
Univ Autonoma Barcelona UAB, Hosp Santa Creu & St Pau, Dept Genet, U CIBERER 705, Barcelona 08025, Spain
Delgadillo, V:
Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, Spain
Juan-Mateu, J:
Univ Barcelona UB, Dept Genet, Inst Recerca, Hosp Santa Creu & St Pau,U CIBERER 705, Barcelona, Spain
Verdura, E:
Univ Barcelona UB, Dept Genet, Inst Recerca, Hosp Santa Creu & St Pau,U CIBERER 705, Barcelona, Spain
Rodriguez, MJ:
Univ Autonoma Barcelona UAB, Hosp Santa Creu & St Pau, Dept Genet, U CIBERER 705, Barcelona 08025, Spain
Baiget, M:
Univ Autonoma Barcelona UAB, Hosp Santa Creu & St Pau, Dept Genet, U CIBERER 705, Barcelona 08025, Spain
Pineda, M:
Hosp St Joan Deu, Pediat Neurol Dept, Barcelona, Spain
Gallano, P:
Univ Autonoma Barcelona UAB, Hosp Santa Creu & St Pau, Dept Genet, U CIBERER 705, Barcelona 08025, Spain
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