COG6

Publications

Althonaian N et al. Secondary --Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review. JIMD reports. 2018;42:105-111. DOI: 10.1007/8904_2018_88. PMID: 29445937. 

Huybrechts S et al. Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype. JIMD reports. 2012;4:103-108. DOI: 10.1007/8904_2011_79. PMID: 23430903. 

Komlosi K et al. Neonatal presentation of COG6-CDG with prominent skin phenotype. JIMD Rep. 2020;55(1):51-58. DOI: 10.1002/jmd2.12154. PMID: 32905044.

Li G et al. Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG). Eur J Med Genet. 2019;62(1):44-46 DOI: org/10.1016/j.ejmg.2018.04.017. PMID: 29709711. 

Lubbehusen J et al. Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation.  Hum Mol Genet. 2010; 19(18):3623–3633. DOI: 10.1093/hmg/ddq278. PMID: 20605848. 

Lugli L et al.  Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG. Am J Med Genet A. 2021;185(4):1187-1194. DOI: 10.1002/ajmg.a.62061. PMID: 33394555.

Mandel H et al. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development. Clin Genet. 2020;98(4):402-407. DOI: 10.1111/cge.13816. PMID: 32683677. 

Rymen D et al.  Key features and clinical variability of COG6-CDG. Molecular genetics and metabolism. Mol Genet Metab. 2015;116(3)163-170. DOI: 10.1016/j.ymgme.2015.07.003. PMID: 26260076.

Shaheen R et al. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet. 2013;50(7):431–436. DOI: 10.1136/jmedgenet-2013-101527 .PMID: 23606727.

Zhi‐Jie Xia et al. The Swedish COG6‐CDG experience and a comprehensive literature review. JIMD Rep. 2022;64(1):79-89. DOI: 10.1002/jmd2.12338. PMID: 36636598.