Article
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
Journal of medical genetics - 1 Mar 2017
Bar Daniel Z, Arlt Martin F, Brazier Joan F, Norris Wendy E, Campbell Susan E, Chines Peter, Larrieu Delphine, Jackson Stephen P, Collins Francis S, Glover Thomas W, Gordon Leslie B
Abstract excerpt
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the LMNA gene. The resultant disease-causing protein, progerin, acts as a dominant negative. Disease severity relies partly on progerin levels. METHODS AND RESULTS: We report a novel form of somatic mosaicism,...
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