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

American Journal of Human Genetics

Volumn 59, Issue 4, 1996, Pages 810-817

  Tan, Jenny ^b   Dunn, James ^b   Jaeken, Jaak ^b   Schachter, Harry ^a  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA; GLYCAN; HISTIDINE; PHENYLALANINE; RESTRICTION ENDONUCLEASE; SERINE; TRANSFERASE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE ALPHA 6 MANNOSIDE BETA 1,2 N ACETYLGLUCOSAMINYLTRANSFERASE II;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN DEVELOPMENT; CARBOHYDRATE SYNTHESIS; CASE REPORT; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; ENZYME INHIBITION; FEMALE; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MONONUCLEAR CELL; PEDIGREE ANALYSIS; POINT MUTATION; PRIORITY JOURNAL;

BLOTTING, NORTHERN; BLOTTING, WESTERN; BRAIN; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHILD; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; FIBROBLASTS; HUMANS; MALE; MONOCYTES; N-ACETYLGLUCOSAMINYLTRANSFERASES; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYSACCHARIDES; RESTRICTION MAPPING;

EID: 0029820486     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Blennow G, Jaeken J, Wiklund LM (1991) Neurological findings in the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand 80:14-20
2. Charuk JHM, Tan J, Bernardini M, Haddad S, Reithmeier RAF, Jaeken J, Schachter H (1995) Carbohydrate-deficient glycoprotein syndrome type II - an autosomal recessive N-acetylglucosaminyltransferase II deficiency different from typical hereditary erythroblastic multinuclearity, with a positive acidified-serum lysis test (HEMPAS). Eur J Biochem 230:797-805
3. Eggens I, Fenderson B, Toyokuni T, Dean B, Stroud M, Hakomori S (1989) Specific interaction between LeX and LeY determinants: a possible basis for cell recognition in preimiplantation embryos and in embryonal carcinoma cells. J Biol Chem 264:9476-9484
4. Feizi T (1993) Oligosaccharides that mediate mammalian cellcell adhesion. Curr Opin Struct Biol 3:701-710
5. Fenderson BA, Eddy EM, Hakomori S (1990) Glycoconjugate expression during embryogenesis and its biological significance. BioEssays 12:173-179
6. Fenderson BA, Zahavi U, Hakomori S (1984) A multivalent lacto-N-fucopentaose III-lysyllysine conjugate decompacts preimplantation mouse embryos, while the free oligosaccharide is ineffective. J Exp Med 160:1591-1596