You don't need to be signed in to read BMJ Blogs, but you can register here to receive updates about other BMJ products and services via our site.

Hypothesis: lobe A (COG1–4)-CDG causes a more severe phenotype than lobe B (COG5–8)-CDG

28 Aug, 17 | by hqqu

Some cellular components may be more equal than others.  In this study we used the frequency gap – underreporting of a certain phenomenon – to determine the relative importance of both A and B lobes for the functioning of a protein complex called “the COG complex”.  Two observations suggest that the consequences of lobe A dysfunction is more severe. First, patients with bi-allelic lobe A defects are underreported compared to lobe B defects. Second, deleterious variants in healthy adults are underreported in lobe A genes compared to lobe B genes. Much like driving a car is more hampered by a defective motor than by a defective gear case, comparable molecular defects are more detrimental in lobe A COG-CDG than in lobe B COG-CDG. (By Hanneke A. Haijes-Siepel and Dr. Peter M. van Hasselt, http://jmg.bmj.com/content/early/2017/08/27/jmedgenet-2017-104586 )

By submitting your comment you agree to adhere to these terms and conditions
You can follow any responses to this entry through the RSS 2.0 feed.
JMG blog homepage

JMG Contact

Research developments and evidence-based medical genetics. Visit site



Creative Comms logo

Latest from Journal of Medical Genetics

Latest from Journal of Medical Genetics