Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome Type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling

Prenatal Diagnosis

Volumn 18, Issue 7, 1998, Pages 693-699

  Charlwood, Joanne ^a   Clayton, Peter ^a   Keir, Geoffrey ^b   Mian, Nasi ^a   Young, Elisabeth ^a   Winchester, Bryan ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Carbohydrate deficient glycoprotein syndrome type 1A; Phosphomannomutase deficiency

Indexed keywords

LYSOSOME ENZYME; PHOSPHOMANNOMUTASE; UNCLASSIFIED DRUG;

AMNIOCENTESIS; AMNION FLUID; AMNIOTIC FLUID CELL; ARTICLE; CASE REPORT; CELL CULTURE; CHORION VILLUS SAMPLING; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; ENZYME ACTIVITY; ENZYMOLOGY; FETUS; FIBROBLAST CULTURE; GENETIC LINKAGE; HAPLOTYPE; HIGH RISK PREGNANCY; HUMAN; INDUCED ABORTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

AMNIOCENTESIS; AMNIOTIC FLUID; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CELLS, CULTURED; CHORIONIC VILLI SAMPLING; FEMALE; FIBROBLASTS; HUMANS; LINKAGE (GENETICS); LYSOSOMES; MALE; MICROSATELLITE REPEATS; PEDIGREE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); PREGNANCY;

EID: 0031855851     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199807)18:7<693::AID-PD335>3.0.CO;2-I     Document Type: Article

References (20)

1. Bjursell, C., Stibler, H., Wahlstrom, J., Kristiansson, B., Skovby, F., Stromme, P., Blennow, G., Martinsson, T. (1997). Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, Type 1 (CDG1): linkage disequilibrium and founder effect in Scandinavian families, Genomics, 39, 247-253.
2. Charlwood, J., Mian, N., Johnson, A., Clayton, P., Keir, G., Winchester, B. (1997). A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS Type 1) with normal phosphomannomutase activity, J. Inher. Metab. Dis., 20, 817-827.
3. Clayton, P., Winchester, B.G., Keir, G. (1992). Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome, J. Inher. Metab. Dis., 15, 857-861.
4. Clayton, P., Winchester, B., di Tomaso, E., Young, E., Keir, G., Rodeck, C. (1993). Carbohydrate deficient glycoprotein syndrome: normal glycosylation in the fetus, Lancet, 341, 956.
5. Jaeken, J., Stibler, H., Hagberg, B. (Eds) (1991). The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement, Acta Paediatr. Scand. Suppl., 375(5), 1-71.
6. Jaeken, J., Carchon, H., Stibler, H. (1993). The carbohydrate deficient glycoprotein syndromes: pre-Golgi and Golgi disorders?, Glycobiology, 3 (5), 423-428.
7. Jaeken, J., Schachter, H., Carchon, H. (1994). Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetylglucosaminyl-transferase II, Arch. Dis. Child, 71, 123-127.
8. Jaeken, J., Besley, G., Buist, N., et al. (1996). Phosphomannomutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome Type 1, J. Inher. Metab. Dis., 19 (supplement 1), 6.
9. Jaeken, J., Matthijs, G., Barone, R., Carchon, H. (1997). Carbohdyrate deficient glycoprotein (CDG) syndrome Type 1, J. Med. Genet., 34, 73-76.
10. Martinsson, T., Bjursell, C., Stibler, H., Kristiansson, B., Skovby, F., Jaeken, J., Blennow, G., Stromme, P., Hanefeld, F., Wahlstrom, J. (1994). Linkage of a locus for carbohydrate deficient glycoprotein syndrome type 1 (CDG1) to chromosome 16 p and linkage disequilibrium to microsatellite marker D16S406, Hum. Molec. Genet., 3, 2037-2042.
11. Matthijs, G., Vandenberk, P., Legius, E., Jaeken, J., Cassiman, J.J. (1996a). Confirmation of linkage of carbohydrate-deficient glycoprotein syndrome type-1 (CDG-1) to chromosome 16p13.13-13.11 and linkage disequilibrium to D16S414, D16S497 and D16S519, Cytogenet. Cell Genet., 72, 16.
12. Matthijs, G., Legius, E., Schollen, E., Vandenberk, P., Jaeken, J., Barone, R., Fiumara, A., Visser, G., Lamber, M., Cassiman, J.-J. (1996b). Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type1 (CDG1), Genomics, 35, 597-599.
13. Matthijs, G., Schollen, E., Pardon, E., Veiga-Da-Cunha, M., Jaeken, J., Cassiman, J.-J., Van Schaftingen, E. (1997a). Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type 1 syndrome (Jaeken syndrome), Nature Genomics, 16, 88-92.
14. Matthijs, G., Schollen, E., Pirad, M., Jaeken, J., Budarf, M., Van Schaftingen, E., Cassiman, J.J. (1997b). PMM(PMM1), the human homologue of SEC53 or yeast phosphomannomutase is localized on chromosome 22q13, Genomics, 40, 41-47.
15. Smith, P.K., Krohm, R.I., Hermanson, G.I., Mallia, A.K., Gartner, F.H., Provenzano, M.D., Klenk, D.C. (1985). Measurement of protein using bicinchoninic acid, Anal. Biochem., 150, 76-85.
16. Stibler, H., Westerburg, B., Ganekeld, F., Hagberg, B. (1993). Carbohydrate deficient glycoprotein syndrome - a new variant type III, Neuropediatrics, 24, 51-52.
17. Stibler, H., Skovby, F. (1994). Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally, Pediatr. Neurol., 11, 71.
18. Stibler, H., Stephani, U., Kutsch, U. (1995). Carbohydrate-deficient glycoprotein syndrome - a fourth sub-type, Neuropaediatrics, 26, 235-237.
19. Van Schaftingen, E., Jaeken, J. (1995). Phosphomannomutase deficiency is a cause of carbohydrate deficient glycoprotein syndrome type 1, FEBS Letters, 377, 318-320.
20. Winchester, B.G., Clayton, P., Mian, N., di-Tomaso, E., Dell, A., Reason, A., Keir, G. (1995). The carbohydrate-deficient glycoprotein syndrome: an experiment of nature in glycosylation, Biochem. Soc. Trans., 23, 185-188.