Jaeken J, Matthijs G. Congenital disorders of glycosylation: a rapidly expanding disease family. Annu Rev Genomics Hum Genet. 2007;8:261–78.
Article CAS PubMed Google Scholar
Jaeken J, Hennet T, Matthijs G, Freeze HH. CDG nomenclature: time for a change! Biochimica et Biophysica Acta. 2009;1792:825–6.
Article CAS PubMed PubMed Central Google Scholar
Péanne R, De Lonlay P, Foulquier F, Kornak U, Lefeber DJ, Morava E, et al. Congenital disorders of glycosylation (CDG): Quo vadis? Eur J Med Genet. 2008;61:643–63.
Ondruskova N, Cechova A, Hansikova H, Honzik T, Jaeken J. Congenital disorders of glycosylation: Still “hot” in 2020. Biochimica et Biophysica Acta (BBA)-General Subjects. 2021;1865:129751.
Pokrovskaya ID, Willett R, Smith RD, Morelle W, Kudlyk T, Lupashin VV. Conserved oligomeric Golgi complex specifically regulates the maintenance of Golgi glycosylation machinery. Glycobiology. 2011;21:1554–69.
Article CAS PubMed PubMed Central Google Scholar
Rymen D, Keldermans L, Race V, Régal L, Deconinck N, Dionisi-Vici C, et al. COG5-CDG: expanding the clinical spectrum. Orphanet J Rare Dis. 2012;7:1–10.
González-Domínguez CA, Raya-Trigueros A, Manrique-Hernández S, González Jaimes A, Salinas-Marín R, Molina-Garay C, et al. Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin. Mol Genet Metab Rep. 2020;25:100637.
PubMed PubMed Central Google Scholar
Matthijs G, Rymen D, Millón MBB, Souche E, Race V. Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG. Glycoconj J. 2013;30:67–76.
Article CAS PubMed Google Scholar
Zhang Z, Huang TL, Ma J, He WJ, Gu H. Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders. BMC Med Genet. 2019;20:1–6.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405–23.
Article PubMed PubMed Central Google Scholar
Oka T, Vasile E, Penman M, Novina CD, Dykxhoorn DM, Ungar D, et al. Genetic analysis of the subunit organization and function of the conserved oligomeric golgi (COG) complex. J Biol Chem 2005;280:32736–45.
Article CAS PubMed Google Scholar
Gudmundsson S, Singer‐Berk M, Watts NA, Phu W, Goodrich JK, Solomonson M, et al. Variant interpretation using population databases: Lessons from gnomAD. Hum Mutat 2022;43:1012–30.
Loh E, Hong W. The binary interacting network of the conserved oligomeric Golgi tethering complex. J Biol Chem. 2004;279:24640–8.
Article CAS PubMed Google Scholar
Ha JY, Pokrovskaya ID, Climer LK, Shimamura GR, Kudlyk T, Jeffrey PD, et al. Cog5–Cog7 crystal structure reveals interactions essential for the function of a multisubunit tethering complex. Proc Natl Acad Sci 2014;111:15762–7.
Article CAS PubMed PubMed Central Google Scholar
Fung CW, Matthijs G, Sturiale L, Garozzo D, Wong KY, et al. COG5-CDG with a mild neurohepatic presentation. JIMD Rep.-Case Res Rep. 2012;2011:67–70.
Paesold-Burda P, Maag C, Troxler H, Foulquier F, Kleinert P, Schnabel S, et al. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. Hum Mol Genet 2009;18:4350–6.
Article CAS PubMed Google Scholar
Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, et al. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: experience of 2 clinical unit and 216 patients. Clin Genet. 2018;93:567–76.
Elmas M, Yıldız H, Erdoğan M, Gogus B, Avcı K, Solak M. Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience. Mol Biol Rep. 2019;46:287–99.
Article CAS PubMed Google Scholar
Wang X, Han L, Wang XY, Wang JH, Li XM, Jin CH, et al. Identification of two novel mutations in COG5 causing congenital disorder of glycosylation. Front Genet 2020;11:168.
Article PubMed PubMed Central Google Scholar
Yin S, Gong L, Qiu H, Zhao Y, Zhang Y, Liu C, et al. Novel compound heterozygous COG5 mutations in a Chinese male patient with severe clinical symptoms and type IIi congenital disorder of glycosylation: a case report. Experimental and Therapeutic. Medicine. 2019;18:2695–2700.
Ferrer A, Starosta RT, Ranatunga W, Ungar D, Kozicz T, Klee E, Rust LM, et al. Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype. Mol Genet Metab. 2020;100:424–9.
Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, et al. Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. NPJ Genom Med. 2016;1:1–9.
Rudd PM, Elliott T, Cresswell P, Wilson IA, Dwek RA. Glycosylation and the immune system. Science. 2010;291:2370–6.
Redler RL, Das J, Diaz JR, Dokholyan NV. Protein destabilization as a common factor in diverse inherited disorders. J Mol Evolut. 2016;82:11–16.
Ciryam P, Tartaglia GG, Morimoto RI, Dobson CM, Vendruscolo M. Widespread aggregation and neurodegenerative diseases are associated with supersaturated proteins. Cell Rep. 2013;5:781–90.
留言 (0)