Phenotype and course of Hutchinson-Gilford progeria syndrome.

ABSTRACT:

Background

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.

Methods

We enrolled 15 children between 1 and 17 years of age, representing nearly half of the world's known patients with Hutchinson-Gilford progeria syndrome, in a comprehensive clinical protocol between February 2005 and May 2006.

Results

Clinical investigations confirmed sclero

SUBMITTER: Merideth MA 

PROVIDER: S-EPMC2940940 | biostudies-literature | 2008 Feb

REPOSITORIES: biostudies-literature