一名摩洛哥Cog7缺陷患者的分子与临床特征
Molecular and clinical characterization of a Moroccan Cog7 deficient patient.
作者信息
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
机构信息
Department of Glycobiology and Carbohydrate Chemistry, Burnham Institute for Medical Research, La Jolla, CA 92037, USA.
出版信息
Mol Genet Metab. 2007 Jun;91(2):201-4. doi: 10.1016/j.ymgme.2007.02.011. Epub 2007 Mar 28.
Abstract
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.
摘要
N-连接糖基化途径中的突变会导致罕见的常染色体隐性缺陷，即先天性糖基化障碍（CDG）。先前报道的保守寡聚高尔基体复合体基因COG7中的突变，在一个突尼斯家族中定义了一种新的CDG亚型。该突变破坏了异源八聚体COG复合体，并改变了N-连接和O-连接糖基化。本文我们展示了来自另一个具有相同突变的家族的临床和生化数据。
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