Mutations in the N-linked glycosylation pathway cause rare autosomal recessive defects known as Congenital Disorders of Glycosylation (CDG). A previously reported mutation in the Conserved Oligomeric Golgi complex gene, COG7, defined a new subtype of CDG in a Tunisian family. The mutation disrupted the hetero-octomeric COG complex and altered both N- and O-linked glycosylation. Here we present clinical and biochemical data from a second family with the same mutation.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1941618PMC
http://dx.doi.org/10.1016/j.ymgme.2007.02.011DOI Listing

Publication Analysis

Top Keywords

family mutation
8
molecular clinical
4
clinical characterization
4
characterization moroccan
4
moroccan cog7
4
cog7 deficient
4
deficient patient
4
patient mutations
4
mutations n-linked
4
n-linked glycosylation
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!