Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: Growing evidence to support founder effects within CDG1 populations

Genetic Testing

Volumn 3, Issue 3, 1999, Pages 305-307

  Crosby, Andrew ^a   Jeffery, Steve ^a   Homfray, Tessa ^a   Taylor, Rohan ^a   Patton, Michael ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOMANNOMUTASE;

ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; FEMALE; FOUNDER EFFECT; GENE MUTATION; HUMAN; MALE; PEDIGREE; PRENATAL DIAGNOSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CHROMOSOMES, HUMAN, PAIR 16; DNA MUTATIONAL ANALYSIS; FEMALE; HAPLOTYPES; HUMANS; MALE; PEDIGREE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 0032840794     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065799316644     Document Type: Article

References (6)

1. JEAKEN, J., STIBLER, H., and HAGBERG, B. (1991). The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta. Paediatr. Scand. (Suppl.) 375, 1-71.
2. MARTINSSON, T., BJURSELL, C., STIBLER, H., KRISTIANSSEN, B., JAEKEN, J., BLENNOW, G., STROMME, P., HANEFELD, F., and WAHLSTROM, J. (1994). Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p and linkage disequilibrium to microsatellite marker D16S406. Hum. Mol. Genet. 11, 2037-2042.
3. MATHIJS, G., SCHOLLEN, E., PARDON, E., VEIGA-DA-CUNHA, M., JAEKEN, J., CASSIMAN, J-J., and VAN SCHAFTINGEN, E. (1997). Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nature Genet. 16, 88-92.
4. STIBLER, H., BLENNOW, G., KRISTIANSSON, B., LINDEHAMMER, H., and HAGBERG, B. (1994). Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease. J. Neurol. Neurosurg. Psychiatry 57, 552-556.
5. SAMBROOK, J., FRITSCH, E.F., and MANIATIS, T. (1989). Molecular Cloning: A Laboratory Manual, 2nd ed. (Cold Spring Harbor Laboratory Press, New York.)
6. VAN SCHAFTINGEN, E., and JAEKEN, J. (1995). Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett. 377, 318-320.