LMNA mutation in progeroid syndrome in association with strokes

作者：Gonzalez Quereda L; Delgadillo V; Juan Mateu J; Verdura E; Rodriguez M J; Baiget M; Pineda M; Gallano P^*

来源：European Journal of Medical Genetics, 2011, 54(6): E576-E579.

DOI：10.1016/j.ejmg.2011.06.012

• HGPS
• LMNA
• Progeria
• Laminopathies

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.

• 出版日期2011-12