The Swedish COG6‐CDG experience and a comprehensive literature review

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 microcepha...

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Bibliographic Details
Published in:	JIMD Reports 2023-01, Vol.64 (1), p.79-89
Main Authors:	Xia, Zhi‐Jie, Ng, Bobby G., Jennions, Elizabeth, Blomqvist, Maria, Sandqvist Wiklund, Anneli, Hedberg‐Oldfors, Carola, Gonzalez, Carlos Rodriguez, Freeze, Hudson H., Ygberg, Sofia, Eklund, Erik A.
Format:	Article
Language:	eng
Subjects:	Age Antibodies Basic Medicine Birth weight Brefeldin A Child development COG6 Congenital diseases congenital disorders of Enamel enamel hypoplasia Failure to thrive Fibroblasts Genomes glycosylation Hypoglycemia hypohidrosis Intellectual disabilities Liver Magnetic resonance imaging Medical and Health Sciences Medical Genetics Medicin och hälsovetenskap Medicinsk genetik Medicinska och farmaceutiska grundvetenskaper Metabolism Microcephaly Neuropsychology Patients Proteins Research Report Research Reports Ultrasonic imaging
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Summary:	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.
ISSN:	2192-8312 2192-8304 2192-8312