Article
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
Human molecular genetics - 15 May 2010
Simon Delphine, Laloo Benoit, Barillot Malika, Barnetche Thomas, Blanchard Camille, Rooryck Caroline, Marche Michèle, Burgelin Ingrid, Coupry Isabelle, Chassaing Nicolas, Gilbert-Dussardier Brigitte, Lacombe Didier, Grosset Christophe, Arveiler Benoit
Abstract excerpt
A family with dominant X-linked chondrodysplasia was previously described. The disease locus was ascribed to a 24 Mb interval in Xp11.3-q13.1. We have identified a variant (c.*281A>T) in the 3' untranslated region (UTR) of the HDAC6 gene that totally segregates with the disease. The variant is lo...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.