Congenital disorders of glycosylation

Annals of the New York Academy of Sciences

Volumn 1214, Issue 1, 2010, Pages 190-198

  Jaeken, Jaak ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

Apo CIII isoelectrofocusing; Lipid glycosylation; N glycosylation; O glycosylation; Transferrin isoelectrofocusing

Indexed keywords

TRANSFERRIN;

ARTICLE; BETA 1,4 GALACTOSYLTRANSFERASE 7 DEFICIENCY; CONGENITAL DISORDER OF GLYCOSYLATION; FAMILIAL DISEASE; GENETIC SCREENING; HUMAN; ISOELECTRIC FOCUSING; MANNOSYLTRANSFERASE I DEFICICIENCY; N ACETYLGALACTOSAMINYLTRANSFERASE 3 DEFICIENCY; N ACETYLGLUCOSAMINYLTRANSFERASE II DEFICIENCY; PHOSPHOMANNOMUTASE 2 DEFICIENCY; PHOSPHOMANNOSE ISOMERASE DEFICIENCY; PROTEIN GLYCOSYLATION; SPONDYLOCOSTAL DYSOSTOSIS TYPE 3;

EID: 78650401291     PISSN: 00778923     EISSN: 17496632     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.2010.05840.x     Document Type: Article

References (39)

1. Jaeken, J., M. Vanderschueren-Lodeweyckx, P. Casaer, et al 1980. Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG-deficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr. Res. 14: 179.
2. Freeze, H.H. 2006. Genetic defects in the human glycome. Nat. Rev. Genet. 7: 537-551.
3. Jaeken, J. & G. Matthijs 2007. Congenital disorders of glycosylation. A rapidly expanding disease family. Annu. Rev. Genomics. Hum. Genet. 8: 261-278.
4. Jaeken, J., T. Hennet, H.H. Freeze & G. Matthijs 2008. On the nomenclature of congenital disorders of glycosylation. J. Inherit. Metab. Dis. 31: 669-672.
5. Jaeken, J., T. Hennet, G. Matthijs & H. Freeze 2009. CDG nomenclature: time for a change! Biochim Biophys Acta 1792: 825-826.
6. Jaeken, J., H.G. Van Eijk, C. van der Heul, et al 1984. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin. Chim. Acta. 144: 245-247.
7. Carchon, H.A., R. Chevigné, J.B. Falmagne & J. Jaeken 2004. Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. Clin. Chem. 50: 101-111.
8. Grünewald, S. 2009. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim. Biophys. Acta. 1792: 827-834.
9. de Lonlay, P. & N. Seta 2009. The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. Biochim. Biophys. Acta. 1792: 841-843.
10. Al-Owain, M., S. Mohamed, N. Kaya, et al 2010. A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet. J. Rare. Dis. 5: 7.
11. Kranz, C., L. Sun, E.A. Eklund, et al 2007. CDG-Id in two siblings with partially different phenotypes. Am. J. Med. Genet. A. 143A: 1414-1420.
12. Kranz, C., A.A. Basinger, Gülsavas-Calicoglu, et al 2007. Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am. J. Med. Genet. A. 143A: 1371-1378.
13. Stölting, T., H. Omran, A. Erlekotte, et al 2009. Novel ALG8 mutations expand the clinical spectrum of congenital disorders of glycosylation type Ih. Mol. Genet. Metab. 98: 305-309.
14. Schwarz, M., C. Thiel, J. Lubbehusen, et al 2004. Deficiency of GDP-Man: GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. Am. J. Hum. Genet. 74: 472-481.
15. Jaeken, J., W. Vleugels, L. Régal, et al 2009. RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation. J. Inherit. Metab. Dis. 32: 756-757.
16. Garshasbi, M., V. Hadavi, H. Habibi, et al 2008. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am. J. Hum. Genet. 82: 1158-1164.
17. Molinari, F., F. Foulquier, P.S. Tarpey, et al 2008. Oligosaccharyltransferase-subunit mutations in syndromic mental retardation. Am. J. Hum. Genet. 82: 1150-1157.
18. de Cock, P. & J. Jaeken 2009. MGAT2 deficiency (CDG-IIa): the life of J. Biochim. Biophys. Acta. 1792: 844-846.
19. Heinritz, W., V. Hüffmeier, S. Strenge, et al 2009. New mutations of EXT1 and EXT2 genes in German patients with multiple osteochondromas. Ann. Hum. Genet. 73: 283-291.
20. Faiyaz-Ul-Haqve, M., S.H. Zaidi, M. Al-Ali, et al 2004. A novel missense mutation in the galactosyltransferase-I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers-Danlos syndrome resembling the progeroid type. Am. J. Med. Genet. A. 128A: 39-45.
21. Chefetz, I. & E. Sprecher 2009. Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis. Biochim. Biophys. Acta. 1792: 847-852.
22. Hiraoka, S., T. Furuishi, G. Nishimura, et al 2007. Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat. Med. 13: 1363-1367.
23. Hewitt, J.E. 2009. Abnormal glycosylation of dystroglycan in human genetic disease. Biochim. Biophys. Acta. 1792: 853-861.
24. Sparrow, D.B., G. Chapman, M.A. Wouters, et al 2006. Mutation of the lunatic fringe gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am. J. Hum. Genet. 78: 28-37.
25. Hess, D., J.J. Keusch, S.A.L. Oberstein, et al 2008. Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective O-glycosylation of thrombospondin type 1 repeats. J. Biol. Chem. 283: 7354-7360.
26. Simpson, M.A., H. Cross, C. Proukakis, et al 2004. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nature. Genet. 36: 1225-1229.
27. Almeida, A.M., Y. Murakami, D.M. Layton, et al 2006. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nature. Med. 12: 846-851.
28. Krawitz, P.M., M.R. Schweiger, C. Rödelsperger, et al 2010. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. Nat. Genet. 42: 827-829.
29. Imbach, T., B. Schenk, E. Schollen, et al 2000. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. J. Clin. Invest. 105: 233-239.
30. Schenk, B., T. Imbach, C.G. Frank, et al 2001. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If. J. Clin. Invest. 108: 1687-1695 (Note: Erratum: J. Clin. Invest.: 111: 925 only).
31. Huizing, M. & D.M. Krasnewich 2009. Hereditary inclusion body myopathy: a decade of progress. Biochim. Biophys. Acta. 1792: 881-887.
32. Hellbusch, C.C., M. Sperandio, D. Frommhold, et al 2007. Golgi GDP-fucose transporter-deficient mice mimic congenital disorder of glycosylation IIc/leukocyte adhesion deficiency II. J. Biol. Chem. 282: 10762-10772.
33. Kranz, C., C. Jungeblut, J. Denecke, et al 2007. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am. J. Hum. Genet. 80: 433-440.
34. Cantagrel, V., D.J. Lefeber, B.G. Ng, et al 2010. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital disorder of glycosylation. Cell 142: 1-15.
35. Foulquier, F. 2009. COG defects, birth and rise! Biochim. Biophys. Acta. 1792: 896-902.
36. Guillard, M., A. Dimopoulou, B. Fischer, et al 2009. Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa. Biochim. Biophys. Acta. 1792: 903-914.
37. Denecke, J. & T. Marquardt 2009. Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now? Biochim. Biophys. Acta. 1792: 915-920.
38. Bianchi, P., E. Fermo, C. Vercellati, et al 2009. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum. Mutat. 30: 1292-1298.
39. Schwarz, K., A. Iolascon, F. Verissimo, et al 2009. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat. Genet. 41: 936-940.