Congenital disorders of glycosylation with emphasis on cerebellar involvement

Seminars in Neurology

Volumn 34, Issue 3, 2014, Pages 357-366

  Barone, Rita ^a   Fiumara, Agata ^a   Jaeken, Jaak ^b  

^a UNIVERSITY OF CATANIA   (Italy)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

cerebellar; cerebellum; congenital disorders of glycosylation

Indexed keywords

APOLIPOPROTEIN C3; BUTYRIC ACID; FUCOSE; GALACTOSE; GALACTOSYLTRANSFERASE; MANNOSE; N ACETYLGLUCOSAMINYLTRANSFERASE; PHOSPHATIDYLINOSITOL; TRANSFERRIN; CARRIER PROTEIN; CREATINE TRANSPORTER;

ARTICLE; CEREBELLUM DISEASE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; DANDY WALKER SYNDROME; DOLICHOLPHOSPHATE MANNOSYL SYNTHASE 1 DEFICIENCY; DOLICHOLPHOSPHATE MANNOSYL SYNTHASE 2 DEFICIENCY; EXOME; GALACTOSYLTRANSFERASE 1 DEFICIENCY; GENE SEQUENCE; GERMLINE PHOSPHATIDYLINOSITOL N ACETYLGLUCOSAMINYLTRANSFERASE DEFICIENCY; GLUCOSYLTRANSFERASE 1 DEFICIENCY; GLUCOSYLTRANSFERASE 2 DEFICIENCY; GLYCOSYLATION; HUMAN; ISOELECTRIC FOCUSING; KAHRIZI SYNDROME; LIPOPROTEIN BLOOD LEVEL; MANNOSYLTRANSFERASE 1 DEFICIENCY; MANNOSYLTRANSFERASE 6 DEFICIENCY; MUSCULAR DYSTROPHY; MUSCULAR DYSTROPHY DYSTROGLYCANOPATHY; NEUROIMAGING; NEUROPATHOLOGY; PRIORITY JOURNAL; SCREENING; TRANSFERRIN BLOOD LEVEL; UDP GALACTOSE TRANSPORTER DEFICIENCY; CEREBELLUM CORTEX; GENETIC PREDISPOSITION; GENETICS; MUTATION; PATHOPHYSIOLOGY;

CEREBELLAR CORTEX; CONGENITAL DISORDERS OF GLYCOSYLATION; GENETIC PREDISPOSITION TO DISEASE; GLYCOSYLATION; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUTATION;

EID: 84926616856     PISSN: 02718235     EISSN: 10989021     Source Type: Journal    
DOI: 10.1055/s-0034-1387197     Document Type: Article

References (102)

1. Freeze H. H., Chong J. X., Bamshad M. J., Ng B. G. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet: 2014; 94 2 161 175
2. Krasnewich D. Human glycosylation disorders. Cancer Biomark: 2014; 14 1 3 16
3. Wolthuis D. F., Janssen M. C., Cassiman D., Lefeber D. J., Morava E. Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation. Expert Rev Mol Diagn: 2014; 14 2 217 224
4. Cylwik B., Naklicki M., Chrostek L., Gruszewska E. Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation. Acta Biochim Pol: 2013; 60 2 151 161
5. Funke S., Gardeitchik T., Kouwenberg D., et al. Perinatal and early infantile symptoms in congenital disorders of glycosylation. Am J Med Genet A: 2013; 161A 3 578 584
6. Jaeken J. Congenital disorders of glycosylation. In: Dulac O., Lassonde M., Sarnat H. B., eds. Handbook of Clinical Neurology. Amsterdam Elsevier: 2013; 1737 1743
7. Matthijs G., Rymen D., Millón M. B., Souche E., Race V. Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG. Glycoconj J: 2013; 30 1 67 76
8. Rosnoblet C., Peanne R., Legrand D., Foulquier F. Glycosylation disorders of membrane trafficking. Glycoconj J: 2013; 30 1 23 31
9. Barone R., Sturiale L., Palmigiano A., Zappia M., Garozzo D. Glycomics of pediatric and adulthood diseases of the central nervous system. J Proteomics: 2012; 75 17 5123 5139
10. Goreta S. S., Dabelic S., Dumic J. Insights into complexity of congenital disorders of glycosylation. Biochem Med (Zagreb): 2012; 22 2 156 170
11. Hennet T. Diseases of glycosylation beyond classical congenital disorders of glycosylation. Biochim Biophys Acta: 2012; 1820 9 1306 1317
12. Woods A. G., Woods C. W., Snow T. M. Congenital disorders of glycosylation. Adv Neonatal Care: 2012; 12 2 90 95
13. Rymen D., Jaeken J. Skin manifestations in CDG. J Inherit Metab Dis: 2014;; Epub ahead of print
14. Freeze H. H., Eklund E. A., Ng B. G., Patterson M. C. Neurology of inherited glycosylation disorders. Lancet Neurol: 2012; 11 5 453 466
15. Footitt E. J., 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; 32 01 S313 S319
16. Morava E., Wosik H. N., Sykut-Cegielska J., et al. Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. Br J Ophthalmol: 2009; 93 3 350 354
17. Coman D., Irving M., Kannu P., Jaeken J., Savarirayan R. The skeletal manifestations of the congenital disorders of glycosylation. Clin Genet: 2008; 73 6 507 515
18. Basmanav F. B., Oprisoreanu A. M., Pasternack S. M., et al. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease. Am J Hum Genet: 2014; 94 1 135 143
19. Zhang Y., Yu X., Ichikawa M., et al. Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol: 2014; 133 5 1400 1409, e1-e5
20. Tegtmeyer L. C., Rust S., van Scherpenzeel M., et al. Multiple phenotypes in phosphoglucomutase 1 deficiency. N Engl J Med: 2014; 370 6 533 542
21. Timal S., Hoischen A., Lehle L., et al. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing. Hum Mol Genet: 2012; 21 19 4151 4161
22. Pérez B., Medrano C., Ecay M. J., et al. A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene. J Inherit Metab Dis: 2013; 36 3 535 542
23. Mohamed M., Cantagrel V., Al-Gazali L., Wevers R. A., Lefeber D. J., Morava E. Normal glycosylation screening does not rule out SRD5A3-CDG. Eur J Hum Genet: 2011; 19 10 1019
24. Lefeber D. J., Morava E., Jaeken J. How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis: 2011; 34 4 849 852
25. van Scherpenzeel M., Timal S., Rymen D., et al. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain: 2014; 137 Pt 4 1030 1038
26. Rymen D., Peanne R., Millón M. B., et al. MAN1B1 deficiency: an unexpected CDG-II. PLoS Genet: 2013; 9 12 e1003989
27. 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 9 841 843
28. Helander A., Jaeken J., Matthijs G., Eggertsen G. Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption. Clin Chim Acta: 2014; 431 15 18
29. Bönnemann C. G., Wang C. H., Quijano-Roy S., et al. Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord: 2014; 24 4 289 311
30. Swoboda K. J., Margraf R. L., Carey J. C., et al. A novel germline PIGA mutation in ferro-cerebro-cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A: 2014; 164A 1 17 28
31. Dauber A., Ercan A., Lee J., et al. Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. Hum Mol Genet: 2014; 23 11 2880 2887
32. Ferris S. P., Kodali V. K., Kaufman R. J. Glycoprotein folding and quality-control mechanisms in protein-folding diseases. Dis Model Mech: 2014; 7 3 331 341
33. Grünewald S. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim Biophys Acta: 2009; 1792 9 827 834
34. Drouin-Garraud V., Belgrand M., Grünewald S., et al. Neurological presentation of a congenital disorder of glycosylation CDG-Ia: implications for diagnosis and genetic counseling. Am J Med Genet: 2001; 101 1 46 49
35. Schoffer K. L., O'Sullivan J. D., McGill J. Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult. Mov Disord: 2006; 21 6 869 872
36. Vermeer S., Kremer H. P., Leijten Q. H., et al. Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening. J Neurol: 2007; 254 10 1356 1358
37. Stark K. L., Gibson J. B., Hertle R. W., Brodsky M. C. Ocular motor signs in an infant with carbohydrate-deficient glycoprotein syndrome type Ia. Am J Ophthalmol: 2000; 130 4 533 535
38. Coorg R., Lotze T. E. Child Neurology: a case of PMM2-CDG (CDG 1a) presenting with unusual eye movements. Neurology: 2012; 79 15 e131 e133
39. Melberg A., Orlén H., Raininko R., et al. Re-evaluation of the dysequilibrium syndrome. Acta Neurol Scand: 2011; 123 1 28 33
40. Lecca M. R., Wagner U., Patrignani A., Berger E. G., Hennet T. Genome-wide analysis of the unfolded protein response in fibroblasts from congenital disorders of glycosylation type-I patients. FASEB J: 2005; 19 2 240 242
41. Sun L., Zhao Y., Zhou K., Freeze H. H., Zhang Y. W., Xu H. Insufficient ER-stress response causes selective mouse cerebellar granule cell degeneration resembling that seen in congenital disorders of glycosylation. Mol Brain: 2013; 6 52 60
42. Jaeken J., Vanderschueren-Lodeweyckx M., Casaer M., et al. 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: 1980; 14 179
43. Akaboshi S., Ohno K., Takeshita K. Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome. Neuroradiology: 1995; 37 6 491 495
44. Horslen S. P., Clayton P. T., Harding B. N., Hall N. A., Keir G., Winchester B. Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch Dis Child: 1991; 66 9 1027 1032
45. Holzbach U., Hanefeld F., Helms G., Hänicke W., Frahm J. Localized proton magnetic resonance spectroscopy of cerebral abnormalities in children with carbohydrate-deficient glycoprotein syndrome. Acta Paediatr: 1995; 84 7 781 786
46. Pavone L., Fiumara A., Barone R., et al. Olivopontocerebellar atrophy leading to recognition of carbohydrate-deficient glycoprotein syndrome type I. J Neurol: 1996; 243 10 700 705
47. Miossec-Chauvet E., Mikaeloff Y., Heron D., et al. Neurological presentation in pediatric patients with congenital disorders of glycosylation type Ia. Neuropediatrics: 2003; 34 1 1 6
48. Coman D., McGill J., MacDonald R., et al. Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. J Clin Neurosci: 2007; 14 7 668 672
49. Shanti B., Silink M., Bhattacharya K., et al. Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency. J Inherit Metab Dis: 2009; 32 01 S241 S251
50. Antoun H., Villeneuve N., Gelot A., Panisset S., Adamsbaum C. Cerebellar atrophy: an important feature of carbohydrate deficient glycoprotein syndrome type 1. Pediatr Radiol: 1999; 29 3 194 198
51. Agamanolis D. P., Potter J. L., Naito H. K., Robinson H. B. Jr, Kulasekaran T. Lipoprotein disorder, cirrhosis, and olivopontocerebellar degeneration in two siblings. Neurology: 1986; 36 5 674 681
52. Harding B. N., Dunger D. B., Grant D. B., Erdohazi M. Familial olivopontocerebellar atrophy with neonatal onset: a recessively inherited syndrome with systemic and biochemical abnormalities. J Neurol Neurosurg Psychiatry: 1988; 51 3 385 390
53. Fiumara A., Barone R., Nigro F., Sorge G., Pavone L. Familial Dandy-Walker variant in CDG syndrome. Am J Med Genet: 1996; 63 2 412 413
54. Barkovich A. J., Millen K. J., Dobyns W. B. A developmental classification of malformations of the brainstem. Ann Neurol: 2007; 62 6 625 639
55. Di Rocco M. On Saraiva and Baraitser and Joubert syndrome: a review. Am J Med Genet: 1993; 46 6 732 733
56. Morava E., Cser B., Kárteszi J., et al. Screening for CDG type Ia in Joubert syndrome. Med Sci Monit: 2004; 10 8 CR469 CR472
57. Romani M., Micalizzi A., Valente E. M. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol: 2013; 12 9 894 905
58. Feraco P., Mirabelli-Badenier M., Severino M., et al. The shrunken, bright cerebellum: a characteristic MRI finding in congenital disorders of glycosylation type 1a. AJNR Am J Neuroradiol: 2012; 33 11 2062 2067
59. Poretti A., Wolf N. I., Boltshauser E. Differential diagnosis of cerebellar atrophy in childhood. Eur J Paediatr Neurol: 2008; 12 3 155 167
60. Vedolin L., Gonzalez G., Souza C. F., Lourenço C., Barkovich A. J. Inherited cerebellar ataxia in childhood: a pattern-recognition approach using brain MRI. AJNR Am J Neuroradiol: 2013; 34 5 925 934, S1-S2
61. Jensen P. R., Hansen F. J., Skovby F. Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. Neuroradiology: 1995; 37 4 328 330
62. Enns G. M., Steiner R. D., Buist N., et al. Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr: 2002; 141 5 695 700
63. Mader I., Döbler-Neumann M., Küker W., Stibler H., Krägeloh-Mann I. Congenital disorder of glycosylation type Ia: benign clinical course in a new genetic variant. Childs Nerv Syst: 2002; 18 1-2 77 80
64. Kjaergaard S., Schwartz M., Skovby F. Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. Arch Dis Child: 2001; 85 3 236 239
65. Worthington S., Arbuckle S., Nelson P., Carey W., Lipson A., Fagan E. Carbohydrate deficient glycoprotein syndrome type I: a cause of cerebellar vermis hypoplasia. J Paediatr Child Health: 1997; 33 6 531 534
66. Aronica E., van Kempen A. A., van der Heide M., et al. Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology. Acta Neuropathol: 2005; 109 4 433 442
67. Stromme P., Maehlen J., Stromme H., Torvik A. Postmortem findings in two patients with the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand: 1991; 375 55 62
68. Pérez-Dueñas B., García-Cazorla A., Pineda M., et al. Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations. Eur J Paediatr Neurol: 2009; 13 5 444 451
69. Mercuri E., Muntoni F. The ever-expanding spectrum of congenital muscular dystrophies. Ann Neurol: 2012; 72 1 9 17
70. Godfrey C., Clement E., Mein R., et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain: 2007; 130 Pt 10 2725 2735
71. Lommel M., Winterhalter P. R., Willer T., et al. Protein O-mannosylation is crucial for E-cadherin-mediated cell adhesion. Proc Natl Acad Sci U S A: 2013; 110 52 21024 21029
72. Vester-Christensen M. B., Halim A., Joshi H. J., et al. Mining the O-mannose glycoproteome reveals cadherins as major O-mannosylated glycoproteins. Proc Natl Acad Sci U S A: 2013; 110 52 21018 21023
73. Cantagrel V., Lefeber D. J., Ng B. G., et al. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. Cell: 2010; 142 2 203 217
74. Al-Gazali L., Hertecant J., Algawi K., El Teraifi H., Dattani M. A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. Am J Med Genet A: 2008; 146 7 813 819
75. Morava E., Wevers R. A., Cantagrel V., et al. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain: 2010; 133 11 3210 3220
76. Kahrizi K., Hu C. H., Garshasbi M., et al. Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet: 2011; 19 1 115 117
77. Gründahl J. E., Guan Z., Rust S., et al. Life with too much polyprenol: polyprenol reductase deficiency. Mol Genet Metab: 2012; 105 4 642 651
78. Kasapkara C. S., Tümer L., Ezgü F. S., et al. SRD5A3-CDG: a patient with a novel mutation. Eur J Paediatr Neurol: 2012; 16 5 554 556
79. Kara B., Ayhan Ö, Gökçay G., Ba͆boʇaoʇlu N., Tolun A. Adult phenotype and further phenotypic variability in SRD5A3-CDG. BMC Med Genet: 2014; 15 10
80. Dupré T., Vuillaumier-Barrot S., Chantret I., et al. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. J Med Genet: 2010; 47 11 729 735
81. Morava E., Vodopiutz J., Lefeber D. J., et al. Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations. Pediatrics: 2012; 130 4 e1034 e1039
82. Kranz C., Sun L., Eklund E. A., Krasnewich D., Casey J. R., Freeze H. H. CDG-Id in two siblings with partially different phenotypes. Am J Med Genet A: 2007; 143A 13 1414 1420
83. Rimella-Le-Huu A., Henry H., Kern I., et al. Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient. J Inherit Metab Dis: 2008; 31 02 S381 S386
84. Weinstein M., Schollen E., Matthijs G., et al. CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. Am J Med Genet A: 2005; 136 2 194 197
85. Dercksen M., Crutchley A. C., Honey E. M., et al. ALG6-CDG in South Africa: genotype-phenotype description of five novel patients. JIMD Rep: 2013; 8 17 23
86. Ichikawa K., Kadoya M., Wada Y., Okamoto N. Congenital disorder of glycosylation type Ic: report of a Japanese case. Brain Dev: 2013; 35 6 586 589
87. Vesela K., Honzik T., Hansikova H., et al. A new case of ALG8 deficiency (CDG Ih). J Inherit Metab Dis: 2009; 32 01 259 264
88. Sorte H., Morkrid L., Rodningen O., et al. Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. Eur J Med Genet: 2012; 55 3 196 202
89. Johnston J. J., Gropman A. L., Sapp J. C., et al. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. Am J Hum Genet: 2012; 90 2 295 300
90. Yang A. C., Ng B. G., Moore S. A., et al. Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy. Mol Genet Metab: 2013; 110 3 345 351
91. Kim S., Westphal V., Srikrishna G., et al. Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie). J Clin Invest: 2000; 105 2 191 198
92. Dancourt J., Vuillaumier-Barrot S., de Baulny H. O., et al. A new intronic mutation in the DPM1 gene is associated with a milder form of CDG Ie in two French siblings. Pediatr Res: 2006; 59 6 835 839
93. Barone R., Aiello C., Race V., et al. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. Ann Neurol: 2012; 72 4 550 558
94. Peters V., Penzien J. M., Reiter G., et al. Congenital disorder of glycosylation IId (CDG-IId) - a new entity: clinical presentation with Dandy-Walker malformation and myopathy. Neuropediatrics: 2002; 33 1 27 32
95. Ng B. G., Buckingham K. J., Raymond K., et al. University of Washington Center for Mendelian Genomics. Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet: 2013; 92 4 632 636
96. Kodera H., Nakamura K., Osaka H., et al. De novo mutations in SLC35A2 encoding a UDP-galactose transporter cause early-onset epileptic encephalopathy. Hum Mutat: 2013; 34 12 1708 1714
97. Foulquier F., Vasile E., Schollen E., et al. Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci U S A: 2006; 103 10 3764 3769
98. Zeevaert R., Foulquier F., Dimitrov B., et al. Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1. Hum Mol Genet: 2009; 18 3 517 524
99. Rymen D., Keldermans L., Race V., et al. COG5-CDG: expanding the clinical spectrum. Orphanet J Rare Dis: 2012; 7 94 104
100. Zeevaert R., Foulquier F., Cheillan D., et al. A new mutation in COG7 extends the spectrum of COG subunit deficiencies. Eur J Med Genet: 2009; 52 5 303 305
101. Foulquier F., Ungar D., Reynders E., et al. 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: 2007; 16 7 717 730
102. Boddaert N., Desguerre I., Bahi-Buisson N., et al. Posterior fossa imaging in 158 children with ataxia. J Neuroradiol: 2010; 37 4 220 230