The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: Identification of 15 population-specific mutations

Journal of Inherited Metabolic Disease

Volumn 1, Issue , 2011, Pages 117-123

  Perez B ^a,b   Vega, A I ^a,b   Ecay, M J ^a,b   Ugarte, M ^a,b   Perez Cerda C ^a,b   Briones, P ^b,c,d   Quelhas, D ^e   Artuch, R ^b,f   Quintana, E ^b,c   Gort, L ^b,c   Matthijs, G ^g  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d CSIC   (Spain)

^e Medical Genetic Institute   (Portugal)

^f Section of Gastroenterology   (Spain)

^g CENTER FOR HUMAN GENETICS   (Belgium)

Author keywords

CDG; CDG Ia; Congenital defects of glycosylation; Mutations; PMM2 CDG

Indexed keywords

EID: 84904705105     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/8904_2011_26     Document Type: Article

References (35)

1. Bjursell C, Wahlstrom J, Berg K, Stibler H, Kristiansson B, Matthijs G, Martinsson T (1998) Detailed mapping of the phosphomannomutase2 (PMM2) gene and mutation detection enable improved analysisfor Scandinavian CDG type I families. Eur J Hum Genet 6(6):603–611
2. Bjursell C, Erlandson A, Nordling M, Nilsson S, Wahlstrom J, Stibler H, Kristiansson B, Martinsson T (2000) PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1Afamily material with a focus on Scandinavian families. Hum Mutat 16(5):395–400
3. Briones P, Vilaseca MA, Schollen E, Ferrer I, Maties M, Busquets C, Artuch R, Gort L, Marco M, van Schaftingen E et al (2002) Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia. J Inherit Metab Dis 25(8):635–646
4. Colome C, Ferrer I, Artuch R, Vilaseca MA, Pineda M, Briones P (2000) Personal experience with the application of carbohydrate efficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation. Clin Chem Lab Med 38(10):965–969
5. Desviat LR, Perez B, Gamez A, Sanchez A, Garcia MJ, Martinez-Pardo M, Marchante C, Boveda D, Baldellou A, Arena J et al (1999) Genetic and phenotypic aspects of phenylalanine hydroxylase deficiencyin Spain: molecular survey by regions. Eur J Hum Genet 7(3):386–392
6. Dipple KM, McCabe ER (2000) Modifier genes convert ‘‘simple’’ Mendelian disorders to complex traits. Mol Genet Metab 71(1–2):43–50
7. Erlandson A, Bjursell C, Stibler H, Kristiansson B, Wahlstrom J, Martinsson T (2001) Scandinavian CDG-Ia patients: genotype/phenol type correlation and geographic origin of founder mutations. Hum Genet 108(5):359–367
8. Freeze HH, Westphal V (2001) Balancing N-linked glycosylation toavoid disease. Biochimie 83(8):791–799
9. Gort L, Boleda MD, Tyfield L, Vilarinho L, Rivera I, Cardoso ML, Santos-Leite M, Giros M, Briones P (2006) Mutational spectrum of classical galactosaemia in Spain and Portugal. J Inherit Metab Dis 29(6):739–742
10. Gort L, Quintana E, Moliner S, Gonzalez-Quereda L, Lopez-Hernandez T, Briones P (2009) An update on the molecular analysis of classicalgalactosaemia patients diagnosed in Spain and Portugal: 7 newmutations in 17 new families. Med Clin (Barc) 132(18):709–711
11. Grunewald S (2009) The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim Biophys Acta 1792(9):827–834
12. Haeuptle MA, Hennet T (2009) Congenital disorders of glycosylation:an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides. Hum Mutat 30(12):1628–1641
13. Imtiaz F, Worthington V, Champion M, Beesley C, Charlwood J, Clayton P, Keir G, Mian N, Winchester B (2000) Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1. J Inherit Metab Dis 23(2):162–174
14. Jaeken J, Artigas J, Barone R, Fiumara A, de Koning TJ, Poll-The BT, de Rijk-van Andel JF, Hoffmann GF, Assmann B, Mayatepek E et al (1997) Phosphomannomutase deficiency is the main cause ofcarbohydrate-deficient glycoprotein syndrome with type I isoelectro focusing pattern of serum sialotransferrins. J Inherit Metab Dis 20(3):447–449
15. Kjaergaard S, Skovby F, Schwartz M (1998) Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1. Eur J Hum Genet 6(4):331–336
16. Kjaergaard S, Skovby F, Schwartz M (1999) Carbohydrate-deficientglycoprotein syndrome type 1A: expression and characterization of wild type and mutant PMM2 in E. coli. Eur J Hum Genet 7(8):884–888
17. 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(5):504–505
18. Mallolas J, Vilaseca MA, Campistol J, Lambruschini N, Cambra FJ, Estivill X, Mila M (1999) Mutational spectrum of phenylalaninehydroxylase deficiency in the population resident in Catalonia:genotype-phenotype correlation. Hum Genet 105(5):468–473
19. Matthijs G (2000) Congenital disorders of glycosylation. Trends Bio chem Sci 25(9):428
20. Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman JJ, Van Schaftingen E (1997) Mutations in PMM2,a phospho mannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome). Nat Genet 16(1):88–92
21. Matthijs G, Schollen E, Van Schaftingen E, Cassiman JJ, Jaeken J (1998) Lack of homozygotes for the most frequent disease allelein carbohydrate-deficient glycoprotein syndrome type 1A. Am JHum Genet 62(3):542–550
22. Matthijs G, Schollen E, Heykants L, Grunewald S (1999) Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). Mol Genet Metab 68(2):220–226
23. Matthijs G, Schollen E, Bjursell C, Erlandson A, Freeze H, Imtiaz F, Kjaergaard S, Martinsson T, Schwartz M, Seta N et al (2000) Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia). Hum Mutat 16(5):386–394
24. Perez-Cerda C, Quelhas D, Vega AI, Ecay J, Vilarinho L, Ugarte M (2008) Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease. Clin Chem 54(1):93–100
25. Perez-Duenas B, Garcia-Cazorla A, Pineda M, Poo P, Campistol J, Cusi V, Schollen E, Matthijs G, Grunewald S, Briones P et al (2009) Long-term evolution of eight Spanish patients with CDG type Ia: typical and atypical manifestations. Eur J Paediatr Neurol 13(5):444–451
26. 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(3):319–322
27. Quelhas D, Quental R, Vilarinho L, Amorim A, Azevedo L (2007) Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2. Ann Hum Genet 71(Pt 3):348–353
28. Quintana E, Navarro-Sastre A, Hernandez-Perez JM, Garcia-Villoria J, Montero R, Artuch R, Ribes A, Briones P (2009) Screening forcongenital disorders of glycosylation (CDG): transferrin HPLCversus isoelectric focusing (IEF). Clin Bio chem 42(4–5):408–415
29. Schollen E, Kjaergaard S, Legius E, Schwartz M, Matthijs G (2000) Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur J Hum Genet 8(5):367–371
30. Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sanchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G (2007a) Characterization of two unusual truncating PMM2 mutationsin two CDG-Ia patients. Mol Genet Metab 90(4):408–413
31. Schollen E, Keldermans L, Foulquier F, Briones P, Chabas A, Sanchez-Valverde F, Adamowicz M, Pronicka E, Wevers R, Matthijs G (2007b) Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients. Mol Genet Metab 90(4):408–413
32. Silvaggi NR, Zhang C, Lu Z, Dai J, Dunaway-Mariano D, Allen KN (2006) The X-ray crystal structures of human alpha-phosphomannomutase1 reveal the structural basis of congenital disorder of glycosylation type 1a. J Biol Chem 281(21):14918–14926
33. Van Schaftingen E, Jaeken J (1995) Phosphomannomutase deficiencyis a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett 377(3):318–320
34. Vega AI, Perez-Cerda C, Desviat LR, Matthijs G, Ugarte M, Perez B (2009) Functional analysis of three splicing mutations identified in the PMM2 gene: toward a new therapy for congenital disorder of glycosylation type Ia. Hum Mutat 30(5):795–803
35. Vega AI, Perez-Cerda C, Abia D, Gamez A, Briones P, Artuch A, Desviat LR, Ugarte M, and Perez B (2011) Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency-congenital disorder of glycosylation. J Inherit Metab Dis 2011 May 4 [Epub ahead of print]