Clinical utility gene card for: MAN1B1 defective congenital disorder of glycosylation

European Journal of Human Genetics

Volumn 24, Issue 7, 2016, Pages e1-e3

  Jaeken, Jaak ^a   Lefeber, Dirk J ^b   Matthijs, Gert ^c  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MAN1B PROTEIN; PROTEIN; UNCLASSIFIED DRUG; MANNOSIDASE;

ANALYTIC METHOD; ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; COST EFFECTIVENESS ANALYSIS; DIFFERENTIAL DIAGNOSIS; FAMILY; GENE; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GENOTYPE; HUMAN; LIFESTYLE; MAN1B1 GENE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; GENETICS; METABOLISM;

CONGENITAL DISORDERS OF GLYCOSYLATION; HUMANS; MANNOSIDASES;

EID: 84947562418     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.248     Document Type: Article

References (6)

1. Rafiq MA, Kuss AW, Puettmann L et al: Mutations in the alpha 1, 2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability. Am J Hum Genet 2011; 89: 176-182.
2. Rymen D, Peanne R, Millón MB et al: MAN1B1 deficiency: an unexpected CDG-II. PLoS Genet 2013; 9 (12): e1003989.
3. Van Scherpenzeel M, Timal S, Rymen D et al: Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain 2014; 137: 1030-1038.
4. Jaeken J, Pirard M, Adamowicz M, Pronicka E, Van Schaftingen E: Inhibition of phosphomannose isomerase by fructose 1-phosphate: an explanation for defective N-glycosylation in hereditary fructose intolerance. Pediatr Res 1996; 40: 764-766.
5. Sturiale L, Barone R, Fiumara A et al: Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology 2005; 15: 1268-1276.
6. Lefeber DJ, Morava E, Jaeken J: How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis 2011; 34: 849-852.