Congenital disorder of glycosylation Ic in patients of Indian origin

Molecular Genetics and Metabolism

Volumn 79, Issue 3, 2003, Pages 221-228

  Newell, J W ^a,e   Seo, N S ^a,f   Enns, G M ^b   McCraken, M ^c   Mantovani, J F ^d   Freeze, H H ^a  

^a BURNHAM INSTITUTE   (United States)

^b STANFORD UNIVERSITY   (United States)

^c San Jose Hospital   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e NESTLÉ RESEARCH CENTER   (Switzerland)

^f TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

Author keywords

CDG Ic; Congenital disorders of glycosylation; Glycosylation; Indian; Glucosyltransferase

Indexed keywords

ARTICLE; CHROMOSOME SUBSTITUTION; CONGENITAL DISORDER OF GLYCOSYLATION; DNA SCREENING; DNA SEQUENCE; EXON; GENE MUTATION; HOMOZYGOSITY; HUMAN; INBORN ERROR OF METABOLISM; INDIAN; MUTATION RATE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 0038353645     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00089-1     Document Type: Article

References (22)

1. Freeze H.H. Human disorders in N-glycosylation and animal models. Biochim. Biophys. Acta. 1573:2002;388-393.
2. Grunewald S., Matthijs G., Jaeken J. Congenital disorders of glycosylation: a review. Pediatr. Res. 5:2002;618-624.
3. Freeze H.H. Update and perspectives on congenital disorders of glycosylation. Glycobiology. 11:2001;129R-143R.
4. Jaeken J., Carchon H. Congenital disorders of glycosylation: the rapidly growing tip of the iceberg. Curr. Opin. Neurol. 14:2001;811-815.
5. Burda P., Borsig L., de Rijk-van Andel J., Wevers R., Jaeken J., Carchon H., Berger E.G., Aebi M. A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide. J. Clin. Invest. 102:1998;647-652.
6. Korner C., Knauer R., Holzbach U., Hanefeld F., Lehle L., von Figura K. Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase. Proc. Natl. Acad. Sci. USA. 95:1998;13200-13205.
7. Imbach T., Burda P., Kuhnert P., Wevers R.A., Aebi M., Berger E.G., Hennet T. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. Proc. Natl. Acad. Sci. USA. 96:1999;6982-6987.
8. Grunewald S., Imbach T., Huijben K., Rubio-Gozalbo M.E., Verrips A., de Klerk J.B., Stroink H., de Rijk-van Andel J.F., Van Hove J.L., Wendel U., Matthijs G., Hennet T., Jaeken J., Wevers R.A. Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Ann. Neurol. 47:2000;776-781.
9. Burda P., Aebi M. The ALG10 locus of Saccharomyces cerevisiae encodes the alpha-1,2 glucosyltransferase of the endoplasmic reticulum: the terminal glucose of the lipid-linked oligosaccharide is required for efficient N-linked glycosylation. Glycobiology. 8:1998;455-462.
10. Panneerselvam K., Freeze H.H. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. J. Clin. Invest. 97:1996;1478-1487.
11. Westphal V., Murch S., Kim S., Srikrishna G., Winchester B., Day R., Freeze H.H. Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation. Am. J. Pathol. 157:2000;1917-1925.
12. Chen X., Levine L., Kwok P.Y. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res. 9:1999;492-498.
13. Hsu T.M., Chen X., Duan S., Miller R.D., Kwok P.Y. Universal SNP genotyping assay with fluorescence polarization detection. Biotechniques. 31:2001;560. 562, 564-8, passim.
14. Kwok P.Y. SNP genotyping with fluorescence polarization detection. Hum. Mutat. 19:2002;315-323.
15. Hanefeld F., Korner C., Holzbach-Eberle U., von Figura K. Congenital disorder of glycosylation-Ic: case report and genetic defect. Neuropediatrics. 31:2000;60-62.
16. Imbach T., Grunewald S., Schenk B., Burda P., Schollen E., Wevers R.A., Jaeken J., de Klerk J.B., Berger E.G., Matthijs G., Aebi M., Hennet T. Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic. Hum. Genet. 106:2000;538-545.
17. Westphal V., Schottstadt C., Marquardt T., Freeze H.H. Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic. Mol. Genet. Metab. 70:2000;219-223.
18. du Plessis J.A., Pretorius P.J., Lippert M.M., Knoll D.P., Erasmus E., van der Westhuizen F.H., Mienie L.J. An atypical carbohydrate-deficient glycoprotein (CDG) syndrome patient in South Africa. S. Afr. Med. J. 91:2001;392-394.
19. Vuillaumier-Barrot S., Le Bizec C., Durand G., Seta N. The T911C (F304S) substitution in the human ALG6 gene is a common polymorphism and not a causal mutation of CDG-Ic. J. Hum. Genet. 46:2001;547-548.
20. de Lonlay P., Seta N., Barrot S., Chabrol B., Drouin V., Gabriel B.M., Journel H., Kretz M., Laurent J., Le Merrer M., Leroy A., Pedespan D., Sarda P., Villeneuve N., Schmitz J., van Schaftingen E., Matthijs G., Jaeken J., Korner C., Munnich A., Saudubray J.M., Cormier-Daire V. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J. Med. Genet. 38:2001;14-19.
21. Comings D.E., MacMurray J.P. Molecular heterosis: a review. Mol. Genet. Metab. 71:2000;19-31.
22. Freeze H.H., Westphal V. Balancing N-linked glycosylation to avoid disease. Biochimie. 83:2001;791-799.