Open AccessPhenotype and Course of Hutchinson–Gilford Progeria Syndrome
Author(s) -
Melissa A. Merideth,
Leslie B. Gordon,
Sarah Clauss,
Vandana Sachdev,
Ann C. M. Smith,
Monique B. Perry,
Carmen C. Brewer,
Christopher Zalewski,
H. Jeffrey Kim,
Beth Solomon,
Brian P. Brooks,
Lynn H. Gerber,
Maria L. Turner,
Demetrio L. Domingo,
Thomas C. Hart,
Jennifer Graf,
James C. Reynolds,
Andrea Gropman,
Jack A. Yanovski,
Marie GerhardHerman,
Francis S. Collins,
Elizabeth G. Nabel,
Richard O. Can,
William A. Gahl,
Wendy J. Introne
Publication year - 2008
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa0706898
Subject(s) - progeria , lmna , medicine , lamin , premature aging , endocrinology , pathology , physiology , genetics , biology , gene , nucleus , psychiatry
Hutchinson-Gilford progeria syndrome is a rare, sporadic, autosomal dominant syndrome that involves premature aging, generally leading to death at approximately 13 years of age due to myocardial infarction or stroke. The genetic basis of most cases of this syndrome is a change from glycine GGC to glycine GGT in codon 608 of the lamin A (LMNA) gene, which activates a cryptic splice donor site to produce abnormal lamin A; this disrupts the nuclear membrane and alters transcription.
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