PMM2-CDG: Phenotype and genotype in four affected family members

Gene

Volumn 531, Issue 2, 2013, Pages 506-509

  Bortot, Barbara ^a   Cosentini, Dora ^a   Faletra, Flavio ^a   Biffi, Stefania ^a   De Martino, Eleonora ^a   Carrozzi, Marco ^a   Severini, Giovanni Maria ^a  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

Author keywords

ALG6; Mutation; N glycosylation; Phenotype genotype correlation; PMM2 CDG

Indexed keywords

ARGININE; HISTIDINE; LEUCINE; METHIONINE; PHOSPHOMANNOMUTASE; PHOSPHOMANNOMUTASE 2; THREONINE; TRANSFERRIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CASE REPORT; CHILD; CONGENITAL DISORDER OF GLYCOSYLATION; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; FATHER; FEMALE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HETEROZYGOTE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; ITALY; MALE; MATING; MISSENSE MUTATION; MOTHER; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; TRANSFERRIN BLOOD LEVEL;

ALG6; ALPHA-1,3-GLUCOSYLTRANSFERASE; CARBOHYDRATE-DEFICIENT TRANSFERRIN; CDG; CDT; CONGENITAL DISORDERS OF GLYCOSYLATION; MUTATION; N-GLYCOSYLATION; PHENOTYPE-GENOTYPE CORRELATION; PHOSPHOMANNOMUTASE 2; PMM2; PMM2-CDG;

AGED; CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MIDDLE AGED; PEDIGREE; PHENOTYPE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 84885435588     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.07.083     Document Type: Article

References (20)

1. Alden A., Ohlson S., Pahlsson P., Ryden I. HPLC analysis of carbohydrate deficient transferrin isoforms isolated by the Axis-Shield %CDT method. Clin. Chim. Acta 2005, 356:143-146.
2. Barone R., et al. Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia. Am. J. Med. Genet. A 2008, 146A:2103-2108.
3. Biffi S., Tamaro G., Bortot B., Zamberlan S., Severini G.M., Carrozzi M. Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs). Clin. Biochem. 2007, 40:1431-1434.
4. Casado M., et al. Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia). Cerebellum 2012, 11:557-563.
5. Colomé C., Ferrer I., Artuch R., Vilaseca M.A., Pineda M., Briones P. Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation. Clin. Chem. Lab. Med. 2000, 38:965-969.
6. Coman D., et al. Congenital disorder of glycosylation type 1a: three siblings with a mild neurological phenotype. J. Clin. Neurosci. 2007, 14:668-672.
7. Giurgea I., Michel A., Le Merrer M., Seta N., de Lonlay P. Underdiagnosis of mild congenital disorders of glycosylation type Ia. Pediatr. Neurol. 2005, 32:121-123.
8. Grunewald S. The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia). Biochim. Biophys. Acta 2009, 1792:827-834.
9. Grünewald S., et al. Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis. Ann. Neurol. 2000, 47:776-781.
10. Grünewald S., Schollen E., Van Schaftingen E., Jaeken J., Matthijs G. High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Am. J. Hum. Genet. 2001, 68:347-354.
11. Jaeken J. Congenital disorders of glycosylation. Ann. N. Y. Acad. Sci. 2010, 1214:190-198.
12. Krasnewich D., O'Brien K., Sparks S. Clinical features in adults with congenital disorders of glycosylation type Ia (CDG-Ia). Am. J. Med. Genet. C: Semin. Med. Genet. 2007, 145C:302-306.
13. Marquardt T., Denecke J. Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies. Eur. J. Pediatr. 2003, 162:359-379.
14. Matthijs G., 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.
15. Renner F., Kanitz R.D. Quantification of carbohydrate-deficient transferrin by ion-exchange chromatography with an enzymatically prepared calibrator. Clin. Chem. 1997, 43:485-490.
16. Schollen E., Kjaergaard S., Legius E., Schwartz M., Matthijs G. Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia). Eur. J. Hum. Genet. 2000, 8:367-371.
17. Van Schaftingen E., Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I. FEBS Lett. 1995, 377:318-320.
18. Vega A.I., et al. Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations. J. Inherit. Metab. Dis. 2011, 34:929-939.
19. Vuillaumier-Barrot S., Isidor B., Dupré T., Le Bizec C., David A., Seta N. Expanding the spectrum of PMM2-CDG phenotype. JIMD Rep. 2012, 5:123-125.
20. Westphal V., et al. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency. Hum. Mol. Genet. 2002, 11:599-604.