Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
@article{Eriksson2003RecurrentDN, title={Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome}, author={Maria Eriksson and William Ted Brown and Leslie B Gordon and Michael W. Glynn and Joel Singer and Laura J. Scott and Michael R. Erdos and Christiane M. Robbins and Tracy Y. Moses and Peter Berglund and Amalia S Dutra and Evgenia Pak and Sandra Durkin and Antonei B Csoka and Michael Boehnke and Thomas W. Glover and Francis S. Collins}, journal={Nature}, year={2003}, volume={423}, pages={293-298} }
Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by features reminiscent of marked premature ageing. [] Key Result Sequencing of LMNA, located in this interval and previously implicated in several other heritable disorders, revealed that 18 out of 20 classical cases of HGPS harboured an identical de novo (that is, newly arisen and not inherited) single-base substitution, G608G(GGC > GGT), within exon 11.
1,885 Citations
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome
- Medicine, BiologyJournal of Medical Genetics
- 2004
It is reported that heterozygous, recurrent de novo point mutations in the lamin A/C gene, a component of the filamentous meshwork of the nuclear lamina, caused Hutchinson-Gilford progeria syndrome.
Paternal origin of LMNA mutations in Hutchinson–Gilford progeria
- BiologyClinical genetics
- 2004
It is shown that G608G mutation responsible for the majority of cases of HGPS arises in the paternal germline, and an advanced paternal age in the fathers of affected individuals is confirmed.
Hutchinson–Gilford progeria syndrome
- BiologyClinical genetics
- 2004
The discovery of the HGPS mutations brings the total number of diseases caused by mutant Lmna to nine, underscoring the astonishing spectrum of laminopathies.
Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype
- MedicineJournal of Medical Genetics
- 2005
A genetic cause has now been implicated following the identification of de novo heterozygous mutations in the LMNA gene in the majority of HGPS patients, which is an extremely rare but devastating disorder that mimics premature aging.
Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes
- BiologyHuman mutation
- 2007
Two patients with extraordinarily severe forms of progeria caused by unusual mutations in LMNA are presented, and farnesyltransferase inhibitors may prove to be useful even when progerin expression levels are higher than those in typical HGPS patients.
Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation.
- Biology, MedicineHuman molecular genetics
- 2006
A critical role for the C-terminal globular lamin A/C region in nuclear structure is suggested and support a major contribution of abnormal assembly to the progeroid phenotype is supported.
An inherited LMNA gene mutation in atypical Progeria syndrome
- Medicine, BiologyAmerican journal of medical genetics. Part A
- 2012
The observation of a non‐consanguineous Moroccan patient presenting with atypical progeria is discussed and the molecular studies showed the heterozygous mutation c.412G>A (p.Gly608Gly) of the LMNA gene, previously reported as a de novo mutation, was inherited from the apparently healthy father who showed a somatic cell mosaicism.
RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
- Medicine
- 2017
There is presently no effective therapy is available for Hutchinson-Gilford progeria syndrome (HGPS), but, it is essential to monitor carefully cardiovascular and cerebrovascular disease.
Hutchinson-Gilford progeria syndrome
- Biology, Medicine
- 2006
Recent studies have shown that blocking famesylation of progerin via the use of farnesyltransferase inhibitors can reduce nuclear blebbing and thus HGPS pathogenicity and pharmacological targeting to correct cellular phenotypes associated with HGPS could be utilized in the future for therapeutic intervention.
HUTCHINSON-GILFORD PROGERIA SYNDROME: A PREMATURELY AGING DISORDER
- Biology, Medicine
- 2014
The clinical characteristics of this disease, the underlying mutation in the lamin A (LMNA) gene that results in this phenotype and the recent advances in treatment strategies are summarized.
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