Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1

European Journal of Human Genetics

Volumn 6, Issue 4, 1998, Pages 331-336

  Kjaergaard, Susanne ^a   Skovby, Flemming ^a   Schwartz, Marianne ^a  

^a University of Copenhagen   (Denmark)

Author keywords

CDG1; Linkage disequilibrium; Mutation; Phosphomannomutase; PMM2

Indexed keywords

ALLELE; ARTICLE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; ENZYME ACTIVITY; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENE MAPPING; GENE MUTATION; HOMOZYGOSITY; HUMAN; PRIORITY JOURNAL;

EID: 0031854537     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200194     Document Type: Article

References (17)

1. Jacken J, Stibler H, Hagberg B (eds): The carbohydratedeficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement. Acta Paediatr Scand 1991; 375 (suppl.): 1-71.
2. Hagberg BA, Blennow G, Kristiansson B, Stibler H: Carbohydrate-deficient glycoprotein syndromes: peculiar group of new disorders. Pediatr Neurol 1993; 9: 255-262.
3. Stibler H, Jaeken J, Kristiansson B: Biochemical characteristics and diagnosis of the carbohydrate-deficient glycoprotein syndrome. Acta Paediatr Scand 1991; 375 (suppl): 21-31.
4. Van Schaftingen E, Jaeken J: Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotien syndrome type I. FEBS Lett 1995; 377: 318-320.
5. Jaeken J, Matthijs G, Barone R, Carchon H: Syndrome of the month: carbohydrate-deficient glycoprotein (CDG) syndrome type I. J Med Genet 1997; 34: 73-77.
6. Jaeken J, Artigas J, Barone R et al: Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inher Metab Dis 1997; 20: 447-449.
7. Martinsson T, Bjursell C, Stibler H et al: 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 1994; 3: 2037-2042.
8. Matthijs G, Legius E, Schollen E et al: Evidence for genetic heterogeneity in the carbohydrate-deficient glycoprotein syndrome type I (CDG1). Genomics 1996; 35: 597-599.
9. Bjursell C, Stibler H, Wahlström J et al: Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families. Genomics 1997; 39: 247-253.
10. Matthijs G, Schollen E, Pirard M, Budarf ML, Van Schaftingen E, Cassiman JJ: PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13. Genomics 1997; 40: 41-47.
11. Wada Y, Sakamoto M: Isolation of the human phosphomannomutase gene (PMM1) and assignment to chromosome 22q13. Genomics 1997; 39: 416-417.
12. Matthijs G, Schollen E, Pardon E et al: Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome. Nat Genet 1997; 16: 88-92.
13. Schollen E, Pardon E, Heykants L et al: Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2ψ: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene. Hum Mol Genet 1998; 7: 157-164.
14. Matthijs G, Schollen E, Van Schaftingen E, Cassiman J-J, Jaeken J: Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type IA (Jaeken syndrome). Am J Hum Genet. In press.
15. Schwartz M, Brandt NJ, Skovby F: Screening for carriers of cystic fibrosis among pregnant women: A pilot study. Eur J Hum Genet 1993; 1: 239-244.
16. Pirard M, Collet J-F, Matthijs G, Van Schaftingen E: Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells. FEBS Lett 1997; 411: 251-254.
17. Kepes F, Schekman R: The yeast SEC53 gene encodes phosphomannomutase. J Biol Chem 1988; 263: 9155-9161.