GDF5 lends a hand to finger abnormalities

In a study appearing online on August 25 in advance of print publication of the September 1 issue of the Journal of Clinical Investigation, Petra Seemann and colleagues describe two mutations in Growth and Differentiation Factor 5 (GDF5), a signaling molecule, that result in altered binding affinities to the BMP type 1 receptors giving rise to opposing phenotypes, brachydactyly type A2 (unusually short digits) and symphalangism (fusion of the hand joints). The authors propose a model for normal joint formation.


TITLE:Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.


AUTHOR:

Petra Seemann

Institute for Molekulare Genetik, Berlin, Germany

View the PDF of this article at:
the-jci/article.php?id=25118


Stacie Bloom

press_releasesthe-jci

212-342-4159

Journal of Clinical Investigation

jci