Congenital disorders of glycosylation: Sweet news

Current Opinion in Pediatrics

Volumn 23, Issue 6, 2011, Pages 581-587

  Theodore, Miranda ^a   Morava, Eva ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

cardiomyopathy; congenital disorders of glycosylation; cutis laxa; deafness; dolichol; nomenclature; oculo cerebellar; skeletal

Indexed keywords

GLYCOSYLPHOSPHATIDYLINOSITOL; MANNOSE;

BRACHYDACTYLY; CONGENITAL DISORDER OF GLYCOSYLATION; GOLGI COMPLEX; HUMAN; MANNOSE PHOSPHATE ISOMERASE DEFICIENCY; METABOLIC DISORDER; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; REVIEW; SKELETON MALFORMATION;

CONGENITAL DISORDERS OF GLYCOSYLATION; GLYCOSYLATION; GOLGI APPARATUS; HUMANS; LIPID METABOLISM;

EID: 80955145770     PISSN: 10408703     EISSN: 1531698X     Source Type: Journal    
DOI: 10.1097/MOP.0b013e32834cd693     Document Type: Review

References (37)

1. Jaeken J. Congenital disorders of glycosylation. Ann N Y Acad Sci 2010; 1214:190-198.
2. Jaeken J, Hennet T, Freeze HH, Matthijs G. On the nomenclature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis 2008; 31:669-672.
3. Morava E, Lefeber D. CDG: an update. J Inherit Metab Dis 2011; 34:847-848.
4. Jaeken J, Hennet T, Matthijs G, Freeze HH. CDG nomenclature: time for a change! Biochim Biophys Acta 2009; 1792:825-826.
5. Al-Owain M, Mohamed S, Kaya N, et al. A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report. Orphanet J Rare Dis 2010; 5:7.
6. Footitt EJ, Karimova A, Burch M, et al. Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. J Inherit Metab Dis 2009. [Epub ahead of print]
7. Lefeber DJ, Schonberger J, Morava E, et al. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet 2009; 85:76-86.
8. Drijvers JM, Lefeber DJ, de Munnik SA, et al. Skeletal dysplasia with brachy-telephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations. Clin Genet 2010; 77:507-509.
9. Coman D, Irving M, Kannu P, et al. The skeletal manifestations of the congenital disorders of glycosylation. Clin Genet 2008; 73:507-515. (Pubitemid 351663929)
10. Mohamed M, Guillard M, Wortmann SB, et al. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. Biochim Biophys Acta 2011; 1812:691-698.
11. Wopereis S, Morava E, Grunewald S, et al. A combined defect in the biosynthesis of N-and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics. Biochim Biophys Acta 2005; 1741:156-164. (Pubitemid 40825001)
12. Kornak U, Reynders E, Dimopoulou A, et al. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat Genet 2008; 40:32-34.
13. Hucthagowder V, Morava E, Kornak U, et al. Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival. Hum Mol Genet 2009; 18:2149-2165.
14. Mohamed M, Kouwenberg D, Gardeitchik T, et al. Metabolic cutis laxa syndromes. J Inherit Metab Dis 2011; 34:907-916.
15. de Lonlay P, Seta N. The clinical spectrum of phosphomannose isomerase deficiency, with an evaluation of mannose treatment for CDG-Ib. Biochim Biophys Acta 2009; 1792:841-843.
16. Jaeken J. Congenital disorders of glycosylation (CDG): it's (nearly) all in it! J Inherit Metab Dis 2011; 34:853-858.
17. Almeida A, Layton M, Karadimitris A. Inherited glycosylphosphatidyl inositol deficiency: a treatable CDG. Biochim Biophys Acta 2009; 1792:874-880.
18. Haeuptle MA, Pujol FM, Neupert C, et al. Human RFT1 deficiency leads to a disorder of N-linked glycosylation. Am J Hum Genet 2008; 82:600-606.
19. Jaeken J, Vleugels W, Regal L, et al. RFT1-CDG: Deafness as a novel feature of congenital disorders of glycosylation. J Inherit Metab Dis 2009. [Epub ahead of print]
20. Rind N, Schmeiser V, Thiel C, et al. A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. Hum Mol Genet 2010; 19:1413-1424.
21. Krawitz PM, Schweiger MR, Rodelsperger C, et al. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperpho-sphatasia mental retardation syndrome. Nat Genet 2010; 42:827-829.
22. Cantagrel V, Lefeber DJ, Ng BG, et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell 2010; 142:203-217.
23. Bianchi P, Fermo E, Vercellati C, et al. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat 2009; 30:1292-1298.
24. Morava E, Zeevaert R, Korsch E, et al. A common mutation in theCOG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur J Hum Genet 2007; 15:638-645. (Pubitemid 46825053)
25. Foulquier F. COG defects, birth and rise! Biochim Biophys Acta 2009; 1792:896-902.
26. Reynders E, Foulquier F, Leao Teles E, et al. Golgi function and dysfunction in the first COG4-deficient CDG type II patient. Hum Mol Genet 2009; 18:3244-3256.
27. Paesold-Burda P, Maag C, Troxler H, et al. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation. Hum Mol Genet 2009; 18:4350-4356.
28. Lubbehusen 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 2010; 19:3623-3633.
29. Lefeber DJ, Morava E, Jaeken J. How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis 2011; 34:849-852.
30. Morava E, Lefeber DJ, Urban Z, et al. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet 2008; 16:28-35. (Pubitemid 350269236)
31. Morava E, Wevers RA, Cantagrel V, et al. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 2010; 133:3210-3220.
32. Achouitar S, Mohamed M, Gardeitchik T, et al. Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression. J Inherit Metab Dis 2011; 34:923-927.
33. Guillard M, Morava E, van Delft FL, et al. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem 2011; 57:593-602.
34. Mohamed M, Guillard M, Wortmann SB, et al. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. Biochim Biophys Acta 2011; 1812:691-698.
35. Morava E, Kuhnisch J, Drijvers JM, et al. Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab 2011; 96:E189-E198.
36. Zuchner S, Dallman J, Wen R, et al. Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. Am J Hum Genet 2011; 88:201-206.
37. Freeze HH. Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients [review]. Biochim Biophys Acta 2009; 1792:835-840.