Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia)

European Journal of Human Genetics

Volumn 8, Issue 5, 2000, Pages 367-371

  Schollen, Els ^c   Kjaergaard, Susanne ^a   Legius, Eric ^c   Schwartz, Marianne ^a   Matthijs, Gert ^b  

^a University of Copenhagen   (Denmark)

^b CENTER FOR HUMAN GENETICS   (Belgium)

^c NONE

Author keywords

Carrier frequency; Foetal wastage; Heterozygote advantage; N glycosylation; Phosphomannomutase; Recessive mutation

Indexed keywords

PHOSPHOMANNOMUTASE;

ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; DENMARK; GENE FREQUENCY; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NETHERLANDS; NORMAL HUMAN; POPULATION GENETICS; PRIORITY JOURNAL;

ABORTION, SPONTANEOUS; AMINO ACID SUBSTITUTION; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; GENE FREQUENCY; GLYCOSYLATION; HAPLOTYPES; HETEROZYGOTE; HUMANS; LINKAGE DISEQUILIBRIUM; MUTATION; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 0034082327     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200470     Document Type: Article

References (16)

1. 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.
2. 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.
3. Matthijs G, Schollen E, Pardon E et al: Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 1997; 16: 88-92.
4. 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. Am J Hum Genet 1998; 62: 542-550.
5. Kjaergaard S, Skovby F, Schwartz M: Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. Eur J Hum Genet 1998; 6: 331-336.
6. Bjursell C, Wahlstrom J, Berg K et al: Detailed mapping of the phosphomannomutase 2 (PMM2) gene and mutation detection enable improved analysis for Scandinavian CDG type I families. Eur J Hum Genet 1998; 6: 603-611.
7. Kondo I, Mizugishi K, Yoneda Y et al: Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1. Clin Genet 1999; 55: 50-54.
8. Pirard M, Matthijs G, Heykants L et al: Effect of mutations found in patients with carbohydrate-deficient glycoprotein syndrome Type IA on the activity of phosphomannomutase 2. FEBS Letters 1999; 452: 319-322.
9. Van Tintelen P, Matthijs G, Braam W, Cassiman J-J, Duran M, Poll-The BT: Homozygosity for the F119L mutation in the PMM2 gene in an adult with CDG syndrome type Ia. Eur J Hum Genet 1998; 6(Suppl 1): 62.
10. Dracopoli N, Haines J, Korf B et al (eds): Current Protocols in Human Genetics. John Wiley: 1997, pp 2.6.1-2.6.10.
11. 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.
12. Bjursell C, Stibler H, Wahlström H: 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.
13. Kjaergaard S, Skovby F, Schwartz M: Carbohydrate-deficient glycoprotein syndrome type IA: Expression and characterisation of wild type and mutant PMM2 in E. coli. Eur J Hum Genet, 1999; 7: 884-888.
14. Kristiansson B, Stibler H, Hagberg B, Wahlström J: CDG a recently discovered hereditary metabolic disease. Multiple organ manifestations, incidence 1/80 000, difficult to treat. Lakartidningen 1998; 95: 5742-5748.
15. Romeo G, Devoto M, Galietta LJ: Why is the cystic fibrosis gene so frequent? Hum Genet 1989; 84: 1-5.
16. Prince A: The CFTR advantage-capitalizing on a quirk of fate. Nat Med 1998; 4: 663-664.