Molecular and clinical characterization of a Moroccan Cog7 deficient patient

作者：Ng Bobby G; Kranz Christian; Hagebeuk E E O; Duran M; Abeling N G G M; Wuyts B; Ungar Daniel; Lupashin Vladimir; Hartdorff C M; Poll The B T; Freeze Hudson H^*

来源：Molecular Genetics and Metabolism, 2007, 91(2): 201-204.

DOI：10.1016/j.ymgme.2007.02.011

• N-glycosylation
• Cog7
• congenital disorders of glycosylation

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.

• 出版日期2007-6
• 单位河北医科大学