Congenital disorder of glycosylation type Ia: Searching for the origin of common mutations in PMM2

Annals of Human Genetics

Volumn 71, Issue 3, 2007, Pages 348-353

  Quelhas, D ^a   Quental, R ^b   Vilarinho, L ^a   Amorim, A ^b   Azevedo, L ^b  

^a NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^b UNIVERSITY OF PORTO   (Portugal)

Author keywords

CDG Ia; Glycosylation; Mutation; PMM2; Recombination

Indexed keywords

COMPLEMENTARY DNA; PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME ANALYSIS; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1A; CONTROLLED STUDY; DNA SEQUENCE; ETHNICITY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RECOMBINATION; GENOTYPE; GEOGRAPHIC ORIGIN; HAPLOTYPE; HUMAN; MALE; MOLECULAR EPIDEMIOLOGY; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; POPULATION GENETICS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CARBOHYDRATE METABOLISM, INBORN ERRORS; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; EVOLUTION, MOLECULAR; FEMALE; GLYCOSYLATION; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); POLYMORPHISM, SINGLE NUCLEOTIDE; PORTUGAL; PREGNANCY;

EID: 34247107598     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2006.00334.x     Document Type: Article

References (14)

1. Briones, P., Vilaseca, M. A., Schollen, E., Ferrer, I., Maties, M., Busquets, C., Artuch, R., Gort, L., Marco, M., Van Schaftingen, E., Matthijs, G., Jaeken, J. & Chabas, A. (2002) Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. J Inherit Metab Dis 25, 635-646.
2. Le Bizec, C., Vuillaumier-Barrot, S., Barnier, A., Dupre, T., Durand, G. & Seta, N. (2005) A new insight into PMM2 mutations in the French population. Hum Mutat 25, 504-511.
3. Matthijs, G., Schollen, E., Van Schaftingen, E., Cassiman, J. J. & Jaeken, J. (1998) Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A. Am J Hum Genet 62, 542-550.
4. Matthijs, G., Schollen, E., Bjursell, C., Erlandson, A., Freeze, H. H., Imtiaz, F., Kjaergaard, S., Martinsson, T., Schwartz, M., Seta, N., Vuillaumier-Barrot, S., Westphal, V. & Winchester, B. (2000) Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat 16, 386-394.
5. Myers, S., Bottolo, L., Freeman, C., McVean, G. & Donnelly, P. (2005) A fine-scale map of recombination rates and hotspots across the human genome. Science 310, 321-324.
6. Nachman, M. W. & Crowell, S. L. (2000) Estimate of the Mutation Rate per Nucleotide in Humans. Genome 156, 297-304.
7. Pirard, M., Matthijs, G., Heykants, L., Schollen, E., Grunewald, S., Jaeken, J. & Van Schaftingen, E. (1999) Effect of mutations found in carbohydrate-deficient glycoprotein syndrome type IA on the activity of phosphomannomutase 2. FEBS Lett 452, 319-322.
8. Schollen, E., Kjaergaard, S., Legius, E., Schwartz, M. & Matthijs, G. (2000) Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur J Hum Genet 8, 367-371.
9. Silvaggi, N. R., Zhang, C., Lu, Z., Dai, J., Dunaway-Mariano, D. & Allen, K. N. (2006) The x-ray crystal structures of human alpha-phosphomannomutase 1 reveal the structural basis of carbohydrate deficient glycoprotein syndrome type 1a. J Biol Chem 281, 14918-14926.
10. Stephens, M. & Donnelly, P. (2003) A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73, 1162-1169.
11. Stephens, M., Smith, N. J. & Donnelly, P. (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68, 978-989.
12. Thompson, J. D., Higgins, D. G. & Gibson, T. J. (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22, 4673-4680.
13. Van Schaftingen, E. & Jaeken, J. (1995) Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377, 318-320.
14. Westphal, V., Peterson, S., Patterson, M., Tournay, A., Blumenthal, A., Treacy, E. P. & Freeze, H. H. (2001) Functional significance of PMM2 mutations in mildly affected patients with congenital disorders of glycosylation Ia. Genet Med 3, 393-398.