Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis

Annals of Neurology

Volumn 47, Issue 6, 2000, Pages 776-781

  Grunewald S ^a,b   Imbach, T ^g   Huijben, K ^c   Rubio Gozalbo, M E ^c   Verrips, A ^c   De Klerk, J B C ^d   Stroink, H ^d   De Rijk Van Andel, J F ^e   Van Hove, J L K ^f   Wendel, U ^a   Matthijs, G ^b   Hennet, T ^g   Jaeken, J ^f   Wevers, R A ^c  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^e Ignatius Hospital   (Netherlands)

^f UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^g NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; GLYCOSYLATION; HUMAN; IMMUNOBLOTTING; ISOELECTRIC FOCUSING; NEUROLOGIC DISEASE; NEWBORN; PRIORITY JOURNAL; TRANSFERRIN BLOOD LEVEL;

AMINO ACID SUBSTITUTION; BRAIN; CARBOHYDRATE SEQUENCE; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; ENDOPLASMIC RETICULUM; EPILEPSY; FEMALE; GLUCOSYLTRANSFERASES; GLYCOSYLATION; HOMOZYGOTE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; MUSCLES; MUTATION, MISSENSE; NUCLEAR FAMILY; OLIGOSACCHARIDES; POLYSACCHARIDES; TWINS, MONOZYGOTIC;

EID: 0038497420     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200006)47:6<776::AID-ANA10>3.0.CO;2-5     Document Type: Article

References (29)

1. Jaeken J, Vanderschueren-Lodeweykx M, Casaer P, et al. Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG-deficiency, increased serum arylsulfatase A and increased CSF protein: a new syndrome? Pediatr Res 1980;14:179 (Abstract)
2. Brockhausen L, Schutzbach J, Kuhns W. Glycoproteins and their relationship to human disease. Acta Anat (Basel) 1998; 161:36-78
3. 1-antithrombin, and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I. Scand J Clin Lab Invest 1998;58:55-62
4. Jaeken J, Artigas J, Barone R, et al. Phosphomannomutase deficiency is a cause of carbohydrate deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis 1997;20:447-449
5. Matthijs G, Schollen E, Pardon E, et al. Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 1997;16:88-92
6. Matthijs G, Schollen E, van Schaftingen E, et al. Lack of homozygotes for the most frequent disease allele in the carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet 1998;62:542-550
7. Jaeken J. The carbohydrate deficient glycoprotein syndrome: a new inherited multisysiemic disease with severe nervous system involvement. Acta Paediatr Suppl 1991;375:1-71
8. Jaeken J, Carchon H. The carbohydrate-deficient glycoprotein syndromes: an overview. J Inherit Metab Dis 1993;16:813-820
9. Jaeken J, Matthijs G, Saudubray J-M, et al. Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome wich hepatic-intestinal presentation. Am J Hum Genet 1998;62:1535-1539
10. Niehues R, Hasilik M, Alton G, et al. Carbohydrate-deficient glycoprotein syndrome type Ib: phospbomannose isomerase deficiency and mannose therapy. J Clin Invest 1998;101:1414-1420
11. van Diggelen O, Maat-Kievit JA, de Klerk H, Boonman AMC. Two more Dutch cases of CDG syndrome type Ib: phosphomannomutase isomerase deficiency. J Inherit Metab Dis 1998; 21:97 (Abstract)
12. de Koning TJ, Dorland L, van Diggelen OP, et al. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency. Biochem Biophys Res Commun 1998;245:38-42
13. Burda P, Borsig L, de Rijk-van Andel J, et al. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. J Clin Invest 1998;102:647-652
14. Körner C, Knauer R, Holzbach U, et al. Carbohydrate-deficient glycoptotein syndrome type V: Deficiency of dolichol-P-Glc: Man9GlcNAc2-PP-dolichol glucosyltransferase. Proc Natl Acad Sci USA 1998;95:13200-13205
15. Imbach T, Burda P, Kuhnert P, et al. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Proc Natl Acad Sci USA 1999;96:6982-6987
16. van Eijk HG, van Noort WL. The analysis of human serum transferrins with the PhastSystem: quantitation of microheterogeneity. Electrophoresis 1992;13:354-358
17. Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate deficient glycoprotein syndrome type I. FEBS Lett 1995;377:318-320
18. Grünewild S, Huijben K, de Jong JGN, et al. β-trace protein in human cerebrospinal fluid: a diagnostic marker for N-glycosylation defects in brain. Biochem Biophys Acta 1999;1455:54-60
19. Hagberg BA, Blennow G, Kristiansson B, Stibler H. Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol 1993;9:299-302
20. Stibler H, Jaeken J. Carbohydrate deficient serum transferrin in a new systemic syndrome. Arch Dis Child 1990;65:107-111
21. Fiumara A, Barone R, Buttitta P, et al. Carbohydrate-deficient glycoprotein syndrome type I: ophthalmic aspects in four Sicilian patients. Br J Ophthalmol 1994;78:845-846
22. Clayton PT, Winchester BG, Keir G. Hypertrophic obstructive cardiomyopathy in a neonate with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis 1992;15:857-861
23. Stromland K, Hagberg B, Kristiansson B. Ocular pathology in disialotransferrin developmental deficiency syndrome. Ophthalmol Paediatr Genet 1990;11:309-313
24. Stibler H, Blennow G, Kristiansson B, et al. Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. J Neurol Neurosurg Psychiatry 1994;57:552-556
25. Antoun H, VilleneuvE N, Gelot A, et al. Cerehellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type I. Pediatr Radiol 1999;29:194-198
26. Jensen PR, Hansen FJ, Skovby F. Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. Neuroradiology 1995;37:328-330
27. Ramaekers VTh, Heimann G, Reul J, et al. Genetic disorders and cerebellar structural abnormalities in childhood. Brain 1997;120:1739-1751
28. Orlean P. Dolichol phosphate mannose synthase is required in vivo for glycosyl phosphatidylinositol membrane anchoring, O mannosylation, and N glycosylation of protein in Saccharomyces cerevisiae. Mol Cell Biol 1990;10:5796-5805
29. Orlean P. Congenital disorders of glycosylation caused by defects in mannose addition during N-linked oligosaccharide assembly. J Clin Invest 2000;105:131-132