The Swedish COG6-CDG experience and a comprehensive literature review
(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
- 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
- organization
- publishing date
- 2023-01
- 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
-
- pmid:36636598
- scopus:85146176748
- 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
- 2024-09-15 18:52:03
@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>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.</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}}, }