Article
A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.
Human mutation - 1 Apr 2009
Chung Boi-Dinh, Kayserili Hülya, Ai Minrong, Freudenberg Jan, Uzümcü Abdullah, Uyguner Oya, Bartels Cynthia F, Höning Stefan, Ramirez Alfredo, Hanisch Franz-Georg, Nürnberg Gudrun, Nürnberg Peter, Warman Matthew L, Wollnik Bernd, Kubisch Christian, Netzer Christian
Abstract excerpt
We extend the spectrum of phenotypes caused by mutations in the Wnt/Norrin coreceptor low-density lipoprotein receptor-related protein 5 (LRP5) by identifying two novel types of mutation in related individuals whose presenting features were profound muscle hypotonia, mild mental retardation, blindness, and growth retardation. One mutation removes 6 out of 9 consecutive leucine residues in the LRP5 signal peptide...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.