Molecular and clinical characterization of a Moroccan Cog7 deficient patient

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

doi:10.1016/j.ymgme.2007.02.011

Molecular and clinical characterization of a Moroccan Cog7 deficient patient

Bobby G Ng, Christian Kranz, E E O Hagebeuk, M Duran, N G G M Abeling, B Wuyts, Daniel Ungar, Vladimir Lupashin, C M Hartdorff, B T Poll-The, Hudson H Freeze

Biology

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	201-4
Number of pages	4
Journal	Molecular genetics and metabolism
Volume	91
Issue number	2
DOIs	https://doi.org/10.1016/j.ymgme.2007.02.011
Publication status	Published - 2007

Keywords

Adaptor Proteins, Vesicular Transport
Biological Transport
Brefeldin A
Consanguinity
Endoplasmic Reticulum
Female
Fibroblasts
Humans
Kinetics
Morocco
N-Acetylneuraminic Acid
Polysaccharides

Access to Document

10.1016/j.ymgme.2007.02.011

Cite this

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title = "Molecular and clinical characterization of a Moroccan Cog7 deficient patient",

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.",

keywords = "Adaptor Proteins, Vesicular Transport, Biological Transport, Brefeldin A, Consanguinity, Endoplasmic Reticulum, Female, Fibroblasts, Humans, Kinetics, Morocco, N-Acetylneuraminic Acid, Polysaccharides",

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doi = "10.1016/j.ymgme.2007.02.011",

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journal = "Molecular genetics and metabolism",

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T1 - Molecular and clinical characterization of a Moroccan Cog7 deficient patient

AU - Ng, Bobby G

AU - Kranz, Christian

AU - Hagebeuk, E E O

AU - Duran, M

AU - Abeling, N G G M

AU - Wuyts, B

AU - Ungar, Daniel

AU - Lupashin, Vladimir

AU - Hartdorff, C M

AU - Poll-The, B T

AU - Freeze, Hudson H

PY - 2007

Y1 - 2007

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AB - 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.

KW - Adaptor Proteins, Vesicular Transport

KW - Biological Transport

KW - Brefeldin A

KW - Consanguinity

KW - Endoplasmic Reticulum

KW - Female

KW - Fibroblasts

KW - Humans

KW - Kinetics

KW - Morocco

KW - N-Acetylneuraminic Acid

KW - Polysaccharides

U2 - 10.1016/j.ymgme.2007.02.011

DO - 10.1016/j.ymgme.2007.02.011

M3 - Article

C2 - 17395513

SN - 1096-7192

VL - 91

SP - 201

EP - 204

JO - Molecular genetics and metabolism

JF - Molecular genetics and metabolism

IS - 2

ER -