Congenital disorders of glycosylation (CDG) type II

Congenital disorders of glycosylation (CDGs) are a group of autosomal recessive disorders caused by defects in various genes for N-glycan biosynthesis. CDG type II is caused by one of the enzyme genes involved in the processing of protein bound N-glycans.

Inherited metabolic disease

(CDG-IIa) MGAT2; b1-2 N-acetylglucosaminyltransferase [HSA:4247] [KO:K00736]
(CDG-IIb) GCS1; mannosyl-oligosaccharide glucosidase [HSA:7841] [KO:K01228]
(CDG-IIc) SLC35C1; GDP-fucose transporter [HSA:55343] [KO:K15279]
(CDG-IId) B4GALT1; b1-4 galactosyltransferase [HSA:2683] [KO:K07966]
(CDG-IIe) COG7; component of oligomeric golgi complex 7 [HSA:91949]
(CDG-IIf) SLC35A1; CMP-sialic acid transporter [HSA:10559] [KO:K15272]
(CDG-IIg) COG1; component of oligomeric golgi complex 1 [HSA:9382]
(CDG-IIh) COG8; component of oligomeric golgi complex 8 [HSA:84342]
(CDG-IIi) COG5; component of oligomeric golgi complex 5 [HSA:10466]
(CDG-IIj) COG4; component of oligomeric golgi complex 4 [HSA:25839]

PMID:11228641 (CDG type IIa)

Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N

Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism.

J Med Genet 37:875-7 (2000)

PMID:10788335 (CDG type IIb)

De Praeter CM, Gerwig GJ, Bause E, Nuytinck LK, Vliegenthart JF, Breuer W, Kamerling JP, Espeel MF, Martin JJ, De Paepe AM, Chan NW, Dacremont GA, Van Coster RN

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.

Am J Hum Genet 66:1744-56 (2000)

PMID:11326280 (CDG type IIc)

Lubke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C

Complementation cloning identifies CDG-IIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency.

Nat Genet 28:73-6 (2001)

PMID:11901181 (CDG type IId)

Hansske B, Thiel C, Lubke T, Hasilik M, Honing S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Korner C

Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId.

J Clin Invest 109:725-33 (2002)

PMID:17356545 (CDG type IIe)

Morava E, Zeevaert R, Korsch E, Huijben K, Wopereis S, Matthijs G, Keymolen K, Lefeber DJ, De Meirleir L, Wevers RA

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

Eur J Hum Genet 15:638-45 (2007)

PMID:15576474 (CDG type IIf)

Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R

Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.

Blood 105:2671-6 (2005)

PMID:16537452 (CDG type IIg)

Foulquier F, Vasile E, Schollen E, Callewaert N, Raemaekers T, Quelhas D, Jaeken J, Mills P, Winchester B, Krieger M, Annaert W, Matthijs G

Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.

Proc Natl Acad Sci U S A 103:3764-9 (2006)

PMID:17331980 (CDG type IIh)

Kranz C, Ng BG, Sun L, Sharma V, Eklund EA, Miura Y, Ungar D, Lupashin V, Winkel RD, Cipollo JF, Costello CE, Loh E, Hong W, Freeze HH

COG8 deficiency causes new congenital disorder of glycosylation type IIh.

Hum Mol Genet 16:731-41 (2007)

PMID:17220172 (CDG type IIh)

Foulquier F, Ungar D, Reynders E, Zeevaert R, Mills P, Garcia-Silva MT, Briones P, Winchester B, Morelle W, Krieger M, Annaert W, Matthijs G

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.

Hum Mol Genet 16:717-30 (2007)

PMID:19690088

Paesold-Burda P, Maag C, Troxler H, Foulquier F, Kleinert P, Schnabel S, Baumgartner M, Hennet T

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.

Hum Mol Genet 18:4350-6 (2009)

PMID:19494034

Reynders E, Foulquier F, Leao Teles E, Quelhas D, Morelle W, Rabouille C, Annaert W, Matthijs G

Golgi function and dysfunction in the first COG4-deficient CDG type II patient.

Hum Mol Genet 18:3244-56 (2009)