Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)

European Journal of Medical Genetics

Volumn 62, Issue 1, 2019, Pages 44-46

  Li, Guoqiang ^a   Xu, Yufei ^a   Hu, Xuyun ^a   Li, Niu ^a   Yao, Ruen ^a   Yu, Tingting ^a   Wang, Xiumin ^a   Guo, Weiwei ^a   Wang, Jian ^a  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

COG6 gene; COG6 CDG; Compound heterozygous variants; Targeted next generation sequencing

Indexed keywords

ANTICONVULSIVE AGENT; CREATINE KINASE; CREATINE KINASE MB; D DIMER; GENOMIC DNA; POLIOMYELITIS VACCINE; PRESCRIPTION DRUG; COG6 PROTEIN, HUMAN; VESICULAR TRANSPORT ADAPTOR PROTEIN;

ANHIDROSIS; ANTICONVULSANT THERAPY; ARTICLE; CASE REPORT; CHILD; CHINESE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONVULSION; DEFICIENCY OF SUBUNIT 6 OF THE CONSERVED OLIGOMERIC GOLGI COMPLEX CONGENITAL DISORDER OF GLYCOSYLATION; FAILURE TO THRIVE; FEVER; FIRST DEGREE ATRIOVENTRICULAR BLOCK; GENE; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEART RIGHT BUNDLE BRANCH BLOCK; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HUMAN; INFANT; MALE; MICROCEPHALY; MUTATIONAL ANALYSIS; NEXT GENERATION SEQUENCING; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATENT FORAMEN OVALE; PRESCHOOL CHILD; PRESCRIPTION; PROTHROMBIN TIME; RASH; RECURRENT FEVER; SANGER SEQUENCING; SUBUNIT 6 OF THE CONSERVED OLIGOMERIC GOLGI COMPLEX GENE; GENETICS; MUTATION; PATHOLOGY; PHENOTYPE;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; CONGENITAL DISORDERS OF GLYCOSYLATION; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE;

EID: 85046622138     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2018.04.017     Document Type: Article

References (13)

1. Alsubhi, S., Alhashem, A., Faqeih, E., et al. Congenital disorders of glycosylation: the Saudi experience. Am. J. Med. Genet. A 173:10 (2017), 2614–2621.
2. Bailey Blackburn, J., Pokrovskaya, I., Fisher, P., et al. COG complex complexities: detailed characterization of a complete set of HEK293T cells lacking individual COG subunits. Front Cell Dev. Biol., 4, 2016, 23.
3. Haijes, H.A., Jaeken, J., Foulquier, F., van Hasselt, P.M., Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG. J. Med. Genet., Aug 28 2017, 10.1136/jmedgenet-2017-104586 pii: jmedgenet-2017-104586.
4. Hennet, T., Cabalzar, J., Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction. Trends Biochem. Sci. 40:7 (2015), 377–384.
5. Jaeken, J., Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!. J. Inherit. Metab. Dis. 26:2–3 (2003), 99–118.
6. Lübbehusen, J., Thiel, C., Rind, N., 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. 19:18 (2010), 3623–3633.
7. Pokrovskaya, I.D., Willett, R., Smith, R.D., et al. Conserved oligomeric Golgi complex specifically regulates the maintenance of Golgi glycosylation machinery. Glycobiology 21:12 (2011), 1554–1569.
8. Richards, S., Aziz, N., Bale, S., 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. 17:5 (2015), 405–424.
9. Rymen, D., Winter, J., Van Hasselt, P.M., et al. Key features and clinical variability of COG6-CDG. Mol. Genet. Metab. 116:3 (2015), 163–170.
10. Huybrechts, S.1, De Laet, C., Bontems, P., et al. Deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG): second patient, different phenotype. JIMD Rep. 4 (2012), 103–108.
11. Shaheen, R., Ansari, S., Alshammari, M.J., et al. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J. Med. Genet. 50:7 (2013), 431–436.
12. Ungar, D., Oka, T., Vasile, E., et al. Subunit architecture of the conserved oligomeric Golgi complex. J. Biol. Chem. 280:38 (2005), 32729–32735.
13. Wang, J., Yu, T., Wang, Z., et al. A new subtype of multiple synostoses syndrome is caused by a mutation in GDF6 that decreases its sensitivity to noggin and enhances its potency as a BMP signal. J. Bone Miner. Res. 31:4 (2016), 882–889.