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The Swedish COG6-CDG experience and a comprehensive literature review

Xia, Zhi Jie ; Ng, Bobby G. ; Jennions, Elizabeth ; Blomqvist, Maria ; Sandqvist Wiklund, Anneli ; Hedberg-Oldfors, Carola LU ; Gonzalez, Carlos Rodriguez ; Freeze, Hudson H. ; Ygberg, Sofia and Eklund, Erik A. LU (2023) In JIMD Reports 64(1). p.79-89
Abstract

Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6-congenital disorders of glycosylation (COG6-CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD), delayed brain myelinization, progressive microcephaly, joint laxity, hyperkeratosis, frequent infections, and enamel hypoplasia. In one family, compound heterozygous variants in COG6 were identified, where one (c.785A>G; p.Tyr262Cys) has previously been described in patients of Moroccan descent, whereas the other (c.238G>A; p.Glu80Lys) is undescribed. On the other hand, a previously undescribed homozygous duplication (c.1793_1795dup) was deemed the cause of the disease. To confirm the... (More)

Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6-congenital disorders of glycosylation (COG6-CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD), delayed brain myelinization, progressive microcephaly, joint laxity, hyperkeratosis, frequent infections, and enamel hypoplasia. In one family, compound heterozygous variants in COG6 were identified, where one (c.785A>G; p.Tyr262Cys) has previously been described in patients of Moroccan descent, whereas the other (c.238G>A; p.Glu80Lys) is undescribed. On the other hand, a previously undescribed homozygous duplication (c.1793_1795dup) was deemed the cause of the disease. To confirm the pathogenicity of the variants, we treated patient and control fibroblasts with the ER-Golgi transport inhibitor Brefeldin-A and show that patient cells manifest a significantly slower anterograde and retrograde ER-Golgi transport.

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author
; ; ; ; ; ; ; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Brefeldin A, COG6, congenital disorders of, enamel hypoplasia, glycosylation, hypohidrosis
in
JIMD Reports
volume
64
issue
1
pages
11 pages
publisher
Springer
external identifiers
  • scopus:85146176748
  • pmid:36636598
ISSN
2192-8304
DOI
10.1002/jmd2.12338
language
English
LU publication?
yes
id
e50f08f6-14e8-48c2-a5dd-e48d762f7ee9
date added to LUP
2023-02-16 12:29:39
date last changed
2024-04-14 03:49:51
@article{e50f08f6-14e8-48c2-a5dd-e48d762f7ee9,
  abstract     = {{<p>Here, we present the first two Swedish cases of Conserved Oligomeric Golgi complex subunit 6-congenital disorders of glycosylation (COG6-CDG). Their clinical symptoms include intellectual disability, Attention Deficit/Hyperactivity Disorder (ADHD), delayed brain myelinization, progressive microcephaly, joint laxity, hyperkeratosis, frequent infections, and enamel hypoplasia. In one family, compound heterozygous variants in COG6 were identified, where one (c.785A&gt;G; p.Tyr262Cys) has previously been described in patients of Moroccan descent, whereas the other (c.238G&gt;A; p.Glu80Lys) is undescribed. On the other hand, a previously undescribed homozygous duplication (c.1793_1795dup) was deemed the cause of the disease. To confirm the pathogenicity of the variants, we treated patient and control fibroblasts with the ER-Golgi transport inhibitor Brefeldin-A and show that patient cells manifest a significantly slower anterograde and retrograde ER-Golgi transport.</p>}},
  author       = {{Xia, Zhi Jie and Ng, Bobby G. and Jennions, Elizabeth and Blomqvist, Maria and Sandqvist Wiklund, Anneli and Hedberg-Oldfors, Carola and Gonzalez, Carlos Rodriguez and Freeze, Hudson H. and Ygberg, Sofia and Eklund, Erik A.}},
  issn         = {{2192-8304}},
  keywords     = {{Brefeldin A; COG6; congenital disorders of; enamel hypoplasia; glycosylation; hypohidrosis}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{79--89}},
  publisher    = {{Springer}},
  series       = {{JIMD Reports}},
  title        = {{The Swedish COG6-CDG experience and a comprehensive literature review}},
  url          = {{http://dx.doi.org/10.1002/jmd2.12338}},
  doi          = {{10.1002/jmd2.12338}},
  volume       = {{64}},
  year         = {{2023}},
}