Lamin A Truncation in Hutchinson-Gilford Progeria

  title={Lamin A Truncation in Hutchinson-Gilford Progeria},
  author={Annachiara De Sandre-Giovannoli and Rafaëlle Bernard and Pierre Cau and Claire Laure Navarro and Jeanne Amiel and Irène Boccaccio and Stanislas Lyonnet and Colin L Stewart and Arnold Munnich and Martine le Merrer and Nicolas L{\'e}vy},
  pages={2055 - 2055}
Little is known about the pathophysiology of human senescence. Hutchinson-Gilford progeria syndrome (HGPS) is an exceedingly rare but typical progeria, clinically characterized by postnatal growth retardation, midface hypoplasia, micrognathia, premature atherosclerosis, absence of subcutaneous fat, 
Hutchinson-Gilford Progeria Syndrome
The Hutchinson-Gilford syndrome or progeria is a laminopathy generated by mutations that affect LMNA gene. This produces an abnormal protein named progerine which alters the formation of the cellularExpand
Hutchinson-Gilford Progeria Syndrome
In the present review aspects related to the pathophysiology and clinical characteristics of this syndrome are shown. Expand
Signaling defects and the nuclear envelope in progeria.
Hutchinson-Gilford progeria syndrome is a rare childhood genetic disorder with features of accelerated aging. In this issue, Hernandez et al. observe decreased Wnt signaling and extracellular matrixExpand
An association of Hutchinson–Gilford progeria and malignancy
The rare association of osteosarcoma and slowly progressing progeria in an 11‐year‐old girl carrying a truncating heterozygous c.1868C > G (p.T623S) prelamin A mutation is described. Expand
Hutchinson Gilford progeria syndrome
A rare case of short-statured female with features of aging and skin manifestations, suggestive of progeria is presented, and conventional biochemical and radiological features help in confirming the diagnosis. Expand
Hutchinson–Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature
Correlations between genotype and phenotype in children with progeroid syndromes are beginning to emerge and two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. Expand
Progeria Research Day at Brunel University
Hutchinson-Gilford Progeria Syndrome (HGPS) is a severe premature aging syndrome that affects children. These children display characteristics associated with normal aging and die young usually fromExpand
Towards a Drosophila model of Hutchinson-Gilford progeria syndrome.
It is found that ectopic progerin and lamin A phenocopy several effects of laminopathies in developing and adult Drosophila, but that proger in causes a stronger phenotype than wild-type lamin C. Expand
Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model
A comprehensive literature review of the clinical features and genetic mutations and mechanisms of Hutchinson-Gilford progeria syndrome shows the necessity of a more detailed clinical identification and the need for more studies on the pharmacologic and pharmacogenomic approach to this syndrome. Expand
Hutchinson-Gilford progeria syndrome
A 9 months old female child presented with a history of progressive coarsening of skin, failure to thrive and irregular bumps over thighs, buttocks and lower limbs for the last 7½ months develops alopecia, hyperpigmented spots over the abdomen with thickening and a typical facial profile of HGPS. Expand


Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
Pat skin fibroblasts showed nuclei that presented abnormal lamin A/C distribution and a dysmorphic envelope, thus demonstrating the pathogenic effect of the R527H LMNA mutation, which was shared by all affected patients. Expand
The nuclear lamina and inherited disease.
The involvement of lamins in several different disorders shows that research on the nuclear lamina will shed light on common human pathologies, and the precise pathogenic mechanisms are currently unknown. Expand