Congenital disorders of glycosylation and intellectual disability

Developmental Disabilities Research Reviews

Volumn 17, Issue 3, 2013, Pages 211-225

  Wolfe, Lynne A ^a   Krasnewich, Donna ^b  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES   (United States)

Author keywords

Glycan; Glycosylation; Intellectual disability; Macrocephaly; Metabolic disease; Microcephaly; Osteopenia

Indexed keywords

ALBUMIN; ALPHA DYSTROGLYCAN; ALPHA MANNOSIDASE; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 9; DOLICHOL; FUROSEMIDE; GLUCOSYLTRANSFERASE; GLYCOPROTEIN; GLYCOSAMINOGLYCAN; GUANOSINE DIPHOSPHATE FUCOSE; MANNOSYLTRANSFERASE; PHOSPHOMANNOMUTASE; PROTEOGLYCAN; PROTHROMBIN; TRANSFERRIN;

ABDOMINAL PAIN; BACTERIAL INFECTION; BLOOD CLOTTING DISORDER; BONE DYSPLASIA; BRACHYDACTYLY; BRAIN MALFORMATION; CARDIOMYOPATHY; CATARACT; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CEREBRAL BLINDNESS; CONGENITAL DISORDER OF GLYCOSYLATION; CORNEA DYSTROPHY; CYTOPLASM; DANDY WALKER SYNDROME; DEVELOPMENTAL DISORDER; DYSOSTOSIS; EHLERS DANLOS SYNDROME; ENDOPLASMIC RETICULUM; ENTEROPATHY; ENZYME DEFICIENCY; FAILURE TO THRIVE; FEEDING BEHAVIOR; FEEDING DIFFICULTY; FINGER MALFORMATION; FLUID RETENTION; FRACTURE; GASTROINTESTINAL HEMORRHAGE; GLYCOSYLATION; GOLGI COMPLEX; GROWTH HORMONE DEFICIENCY; HEARING IMPAIRMENT; HUMAN; HYDROCEPHALUS; HYPERINSULINEMIA; HYPOALBUMINEMIA; HYPOGLYCEMIA; INFANTILE SPASM; INFECTION; INHERITANCE; INSULIN RESISTANCE; INTELLECTUAL IMPAIRMENT; INTRACELLULAR SPACE; INTRACTABLE EPILEPSY; ISOELECTRIC FOCUSING; JOINT CONTRACTURE; KIDNEY TUBULE DISORDER; KYPHOSCOLIOSIS; LEUKOCYTOSIS; LEUKOPENIA; LIVER DISEASE; MACROCEPHALY; MICROCEPHALY; MITRAL VALVE; MUSCLE DISEASE; MUSCLE HYPOTONIA; NEUTROPENIA; NEUTROPHILIA; NUCLEAR MAGNETIC RESONANCE IMAGING; NUTRITIONAL SUPPORT; NYSTAGMUS; OCCUPATIONAL THERAPY; OPTIC NERVE ATROPHY; OSTEOPENIA; OTITIS; OUTER MEMBRANE; PERICARDIAL EFFUSION; PERIODONTITIS; PERIPHERAL NEUROPATHY; PETERS ANOMALY; PHENOTYPE; PHYSIOTHERAPY; PNEUMONIA; POLYNEUROPATHY; PRIORITY JOURNAL; PROTEIN LOSING GASTROENTEROPATHY; PROTEIN SYNTHESIS; RETINA DETACHMENT; RETINITIS PIGMENTOSA; REVIEW; SHORT STATURE; SKELETON MALFORMATION; SPEECH THERAPY; SPINE MALFORMATION; SPONDYLOEPIPHYSEAL DYSPLASIA; STRABISMUS; SUBCUTANEOUS FAT; THROMBOSIS; TUMOR CALCINOSIS; VEIN THROMBOSIS; ANIMAL; COMPLICATION; CONGENITAL DISORDERS OF GLYCOSYLATION; DISORDERS OF CARBOHYDRATE METABOLISM; GENETICS; INTELLECTUAL DISABILITY; METABOLISM; PROTEIN PROCESSING; SYNDROME;

ANIMALS; CARBOHYDRATE METABOLISM, INBORN ERRORS; CONGENITAL DISORDERS OF GLYCOSYLATION; GLYCOSYLATION; HUMANS; INTELLECTUAL DISABILITY; PROTEIN PROCESSING, POST-TRANSLATIONAL; SYNDROME;

EID: 84893419976     PISSN: 19405510     EISSN: 19405529     Source Type: Journal    
DOI: 10.1002/ddrr.1115     Document Type: Review

References (81)

1. Almeida AM, Murakami Y, Layton DM, et al. 2006. Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. Nat Med 12:846-851
2. Baasanjav S, Al-Gazali L, Hashiguchi T, et al. 2011. Faulty initiation of proteoglycan synthesis causes cardiac and joint defects. Am J Hum Genet 89:15-27
3. Blank C, Smith LA, Hammer DA, et al. 2006. Recurrent infections and immunological dysfunction in congenital disorder of glycosylation Ia (CDG Ia). JIMD Online; DOI 10.1007/s 10545-006-0275-2
4. Cantagrel V, Lefeber DJ. 2011. From Glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic disorders. J Inherit Metab dis DOI 10.1007/s10545-011-9301-0
5. Clayton PT, Grunewald S. 2009. Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In). J Inherit Metab Dis 11:11
6. Coman D, Irving M, Kannu P, et al. 2008. The skeletal manifestations of the congenital disorders of glycoyslation. Clin Genet 73:507-515
7. Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, et al. 2000. Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. J Med Genet 37:875-877
8. Damen G, de Klerk H, Huijmans J, et al. 2004. Gastrointestinal and other clinical manifestations in 17 children with congenital disorders of glycosylation type Ia, Ib and Ic. J Pediatric Gastroenterol Nutr 38:282-287
9. De Praeter CM, Gerwig GJ, Bause E, et al. 2000. A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency. Am J Hum Genet 66:1744-1756
10. Dupre T, Vuillaumier-Barrot S, Chantret I, et al. 2010. Guanosine diphosphate-mannose:Glc-NAc2-PP-dolichol mannosyltransferase deficiency (congenital disorder of glycosylation 1k): five new patients and seven novel mutations. J Med Genet 47:729-735
11. Eklund EA, Newll JW, Sun L, et al. 2005. Molecular and clinical description of the first US patients with congenital disorder of glycosylation Ig. Mol Genet Metab 84:25-31
12. Faiyaz-Ul-Haque M, Zaidi SH, Al-Ali M, 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 128:39-45
13. Ficicioglu C, Haack K. 2009. Failure to thrive: when to suspect inborn errors of metabolism. Pediatrics 124:982-989
14. Footitt EJ, Karmova A, Burch M, et al. 2009. Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review. JIMD Online DOI 10.1007/s10545-009-1262-1
15. Foulquier F. 2008. COG defects, birth and rise! Biochim Biophys Acta doi:10.1016/ j.bbadis.2008.10.020
16. Foulquier F, Vasile E, Schollen E, et al. 2006. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci USA 103:3764-3769
17. Frank CG, Grubenmann CE, Eyaid W, et al. 2004. Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL. Am J Hum Genet 75:146-150
18. Freeze HH. 2006. Genetic defects in the human glycome. Nat Rev 7:537-551
19. Garshasbi M, Hadavi V, Habibi H, et al. 2008. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet 82:1158-1164
20. Golas GA, He M, Xia B, et al. 2011. Further characterization of Congenital Disorder of Glycosylation IIb in siblings. Society of Inherited Metabolic Disease meeting. Asilomar, CA February 27-March 2, 2011
21. Grunewald S. 2009. The clinical spectrum of phosphomannomutase 2 deficiency (CDGIa). Biochim Biophys Acta 1792:827-834
22. Guillard M, Wada Y, Hansikova H, et al. 2011. Transferrin mutations at glycosylation site complicate diagnosis of congenital disorders of glycosylation type I. J Inherit Metab Dis DOI 10.1007/s10545-0119311y
23. Hayee B, Antonopoulos A, Murphy EJ, et al. 2011. G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction. Glycobiology 21:914-924
24. Heinonen TYK, Mäki M. 2009. Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the ß1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. Annals Med 41:2-10
25. Hiraoka S, Furuichi T, Nishimura G, 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
26. Horn D, Krawitz P, Mannhardt A, et al. 2011. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. Am J Med Genet A 155:1917-1922
27. Imbach T, Schenk B, Schollen E, et al. 2000. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie. J Clin Invest 105:233-239
28. Iolascon A, Russo R, Delaunay J. 2011. Congenital dyserythropoietic anemias. Current Opin Hematol 18:1-6
29. Jaeken J. 2010. Congenital disorders of glycosylation. Ann NY Acad Sci 1214:190-198
30. Jaeken J. 2011. Congenital disorders of glycosylation (CDG): it's (nearly) all in it! J Inherit Metab Dis 34:853-858
31. Jaeken J, Hennet T, Freeze HH, et al. 2008. On the nomenclature of congenital disorders of glycosylation (CDG). J Inherit Metab Dis 31:699-672
32. Kornak U, Reynders E, Dimopoulou A, et al. 2008. Impaired glycosylation and cutis laxa caused by mutations in the vesicular H1-ATPase subunit ATP6V0A2. Nat Genet 40:32-34
33. Kranz C, Basinger AA, Gucsavas-Calikoglu M, et al. 2007a. Expanding spectrum of congenital disorder of glycosylation Ig (CDGIg): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality. Am J Med Genet A 143:1371-1378
34. Kranz C, Denecke J, Lehle L, et al. 2004. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Am J Hum Genet 74:545-551
35. Kranz C, Denecke J, Lehrman MA, et al. 2001. A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If). J Clin Invest 108:1613-1619
36. Kranz C, Jungeblut C, Denecke J, et al. 2007b. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. Am J Hum Genet 80:433-440
37. Kranz C, Ng BG, Sun L, et al. 2007c. COG8 deficiency causes new congenital disorder of glycosylation type IIh. Hum Mol Genet 16:731-741
38. Kranz C, Sun L, Eklund EA, et al. 2007d. CDGId in two siblings with partially different phenotypes. Am J Med Genet A 143:1414-1420
39. Kosho T, Miyake N, Hatamochi A, et al. 2010. A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragilityrelated manifestations. Am J Med Genet A 152:1333-1346
40. Lefeber DJ, Schonberger J, Morava E, et al. 2009. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. Am J Hum Genet 85:76-86
41. Leroy JG. 2006. Congenital disorders of N-glycosylation including diseases associated with O- as well as N-glycosylation defects. Pediatric Res 60:643-656
42. Lesnik-Oberstein SA, Kriek M, et al. 2006. Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet 79:562-566
43. Li Y, Laue K, Temtamy S, et al. 2010. Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. Am J Hum Genet 87:757-767
44. Lisi EC, Cohn RD. 2011. Genetic evaluation of the pediatric patient with hypotonia: perspective from a hypotonia clinic and review of the literature. Dev Med Child Neurol 53:586-599
45. Lubke T, Marquardt T, Etzioni A, et al. 2001. Complementation cloning identifies CDGIIc, a new type of congenital disorders of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet 28:73-76
46. Martinez-Duncker I, Dupre T, Piller V, et al. 2005. Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. Blood 105:2671-2676
47. Maydan G, Noyman I, Har-Zahav A, et al. 2011. Multiple-congenital anomalies-hypotoniaseizures syndrome is caused by a mutation in PIGN. J Med Genet 48:383-389
48. Mercuri E, Messina S, Bruno C, et al. 2009. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 72:1802-1809
49. Miller BS, Freeze HH. 2003. New disorders of carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system. Rev Endocrine Metabolism Disorders 4:103-113
50. Miller BS, Freeze HH, Hoffman GF, et al. 2011. Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic). Mol Genet Metab Doi:10.1016/ j.ymgme.2011.01.016
51. Moeschler J. 2008. Genetic evaluation of intellectual disabilities. Semin Pediatr Neurol 15:2-9.
52. Mohamed M, Cantagrel V, Al-Gazali L, et al. 2011. Normal glycosylation screening does not rule out SRD5A3-CDG. Eur J Hum Genet 19:1019
53. Mohamed M, Kouwenberg D, Gardeitchik T, et al. 2011. Metabolic cutis laxa syndromes. J Inherit Metab Dis 34:907-916
54. Molinari F, Foulquier F, Tarpey PS, et al. 2008. Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation. Am J Hum Genet 82:1150-1157
55. Morava E, Wevers RA, Canteagrel V, et al. 2010. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain 133:3210-3220
56. Pérez-Dueñas B, García-Cazorla A, Pineda M, et al. 2009. Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations. Eur J Paediatric Neurol 13:444-451
57. Pu JJ, Brodsky RA. 2011. Paroxysmal Nocturnal Hematuria from bench to bedside. WWW.CTSJOURNAL.COM 4:3
58. Rafiq MA, Kuss AW, Puettman L, et al. 2011. Mutations in the Alpha 1,2 Mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 89:176-182
59. Rind N, Schmeiser V, Thiel C, et al. 2003. A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip. Hum Mol Genet 19:1413-1424
60. Schollen E, Frank CG, Keldermans L, et al. 2004. Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). J Med Genet 41:550-556
61. Schwarz K, Iolascon A, Verissimo F, et al. 2009.Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet 41:936-940
62. Sill N, Bachrach LK. 2011. Clinical report-bone densitometry in children and adolescents. Pediatrics 127:189-194
63. Simpson MA, Cross H, Proukakis C, et al. 2004. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-offunction mutation of GM3 synthase. Nat Genet 36:1225-1229
64. Sparks SE, Krasnewich DM. 2011. Congenital disorders of glycosylation. Gene Reviews [Internet] University ofWashington, Seattle,WA 1993-
65. Sparrow DB, Chapman G, Wouters MA, 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
66. Stolting T, Omran H, Erlekotte A, et al. 2009. Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. Mol Genet Metab 98:305-309
67. Tajiri M, Kadoya M, Wada Y. 2009. Dissociation profile of protonated fucosyl glycopeptides and quantitation of fucosylation levels of glycoproteins by mass spectrometry. J Proteome Res 8:688-693
68. Tan J, Dunn J, Jaeken J, Schachter H. 1996. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Am J Hum Genet 59:810-817
69. Thiel C, Schwarz M, Peng J, et al. 2003. A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. J Biol Chem 278:22498-22505
70. Thiel H, Sakano M, Kitagawa H, et al. 2004. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci USA 101:10155-10160
71. Tian J, Ling L, Shboul M, Lee H et al. 2010. Loss of CHSY1, a secreted FRINGE enzyme, causes syndromic brachydactyly in humans via increased NOTCH signaling. Am J Hum Genet 87:768-778
72. Topaz O, Shurman DL, Bergman R, et al. 2004. Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis. Nat Genet 36:579-581
73. Van Baalen A, Rohr A. 2009. Increased brain lactate during stroke-like episode in a patient with congenital disorder of glycosylation type Ia. Brain Dev 31:183
74. Van Hove JLK, Lohr NJ. 2011. Metabolic and monogenic causes of seizures in neonates and young children. Mol Genet Metab Doi: 10.1016/j.ymgme.2011.04.020
75. Varki A, Cummings RD, Esko JD, et al. 2009. Essentials of glycobiology. NY: Cold Spring Harbor
76. Wu X, Rush JS, Karaoglu D, et al. 2003. Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. Hum Mutat 22:144-150
77. Wu X, Steet RA, Bohorov O, Bakker J, et al. 2004. Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat Med 10:518-523
78. Wuyts W, Van Hul W, De Boulle K, et al. 1998. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet 62:346-354
79. Zeevert R, Foulquier F, Jaeken J, et al. 2008. Deficiencies in subunits of Conserved Oligeric Golgi (COG) complex define a novel group of congenital disorders of glycosylation. Mol Gene Metab 93:15-21
80. Zemel BS, Stallings VA, Leonard MB, et al. 2009. Revised pediatric reference data for the lateral distal femur measured by hologic discovery/Delphi dual-energy x-ray absorptiometry. J Clin Densitometry: Assessment Skeletal Health 12:207-218
81. Zhang l, Müller T, Baenziger JU, et al. 2010. Congenital disorders of glycosylation with emphasis on the loss of dermatan-4-sulfotransferase. Prog Mol Biol Translational Sci 93:289-307