Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations

Pediatrics

Volumn 130, Issue 4, 2012, Pages

  Morava, Eva ^a,b   Vodopiutz, Julia ^c   Lefeber, Dirk J ^a   Janecke, Andreas R ^d   Schmidt, Wolfgang M ^e   Lechner, Silvia ^d   Item, Chike B ^c   Sykut Cegielska, Jolanta ^f   Adamowicz, Maciej ^f   Wierzba, Jolanta ^g   Zhang, Zong H ^h   Mihalek, Ivana ^h   Stockler, Sylvia ⁱ   Bodamer, Olaf A ^j   Lehle, Ludwig ^k   Wevers, Ron A ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c MEDICAL UNIVERSITY OF VIENNA   (Austria)

^d INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^e Medical University of Vienna   (Austria)

^f CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^g MEDICAL UNIVERSITY OF GDANSK   (Poland)

^h BIOINFORMATICS INSTITUTE   (Singapore)

ⁱ UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^j UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF REGENSBURG   (Germany)

more..

Author keywords

1,4 mannosyltransferase; CDG Ik; Microcephaly; Seizures; Short chain lipid linked oligosaccharides

Indexed keywords

TRANSFERRIN;

ADULT; ADULTHOOD; ALG1 GENE; ARTICLE; BETA 1,4 MANNOSYLTRANSFERASE DEFICIENCY; BLEEDING; BLOOD CLOTTING DISORDER; BODY DYSMORPHIC DISORDER; CHILD; CHILD DEATH; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; DETERIORATION; DISEASE COURSE; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EPILEPSY; FEMALE; FETUS HYDROPS; GENE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; INFANT; INTRAUTERINE GROWTH RETARDATION; ISOELECTRIC FOCUSING; MALE; MATERNAL HYPERTENSION; MICROCEPHALY; PATHOGENICITY; PHENOTYPE; PHOSPHOMANNOMUTASE 2 DEFICIENCY; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SEIZURE; STRABISMUS; SURVIVAL TIME; THROMBOSIS; VASCULAR DISEASE; VISUAL IMPAIRMENT;

CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; FATAL OUTCOME; FEMALE; GENETIC MARKERS; HUMANS; INFANT; MALE; MANNOSYLTRANSFERASES; MUTATION; PHENOTYPE; YOUNG ADULT;

EID: 84867180277     PISSN: 00314005     EISSN: 10984275     Source Type: Journal    
DOI: 10.1542/peds.2011-2711     Document Type: Article

References (19)

1. Jaeken J, Vanderschueren-Lodeweyckx M, Casaer P. Familial psychomotor retardation with markedly fluctuating serum proteins, FSH and GH levels, partial TBG-de ficiency, increased serum arylsulphatase A and increased CSF protein: a new syndrome? Pediatr Res. 1980;14:179
2. Jaeken J. Congenital disorders of glycosylation. Ann N Y Acad Sci. 2010;1214:190-198
3. Mohamed M, Guillard M, Wortmann SB, Cirak S, Marklova E, et al. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern. Biochim Biophys Acta 2011;1812(6):691-698
4. Lefeber DJ, Morava E, Jaeken J. How to find and diagnose a CDG due to defective N-glycosylation. J Inherit Metab Dis. 2011;34(4):849 -852
5. Morava E, Lefeber D. CDG - an update. J Inherit Metab Dis. 2011;34(4):847 -848
6. Freeze HH. Congenital Disorders of Glycosylation: CDG-I, CDG-II, and beyond. Curr Mol Med. 2007;7(4):389-396 (Pubitemid 46979703)
7. Jaeken J, Hennet T, Matthijs G, Freeze HH. CDG nomenclature: time for a change! Biochim Biophys Acta 2009;1792:825-6.
8. Guillard M, Morava E, van Delft FL, et al. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II. Clin Chem. 2011;57(4):593-602
9. Wopereis S, Grünewald S, Huijben KM, et al. Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. Clin Chem. 2007;53(2):180-187 (Pubitemid 46338261)
10. Schwarz M, Thiel C, Lübbehusen J, et al. Deficiency of GDP-Man:GlcNAc2-PP-dolichol mannosyltransferase causes congenital disorder of glycosylation type Ik. Am J Hum Genet. 2004;74(3):472-481 (Pubitemid 38325918)
11. Kranz C, Denecke J, Lehle L, et al. Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. Am J Hum Genet. 2004;74(3):545- 551
12. Grubenmann CE, Frank CG, Hülsmeier AJ, et al. De ficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet . 2004;13(5):535-542 (Pubitemid 38313212)
13. Dupré T, Vuillaumier-Barrot S, Chantret I, et al. Guanosine diphosphate-mannose: GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. J Med Genet. 2010;47(11):729-735
14. de Koning TJ, Toet M, Dorland L, et al. Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome. J Inherit Metab Dis. 1998;21(6):681-682
15. Huemer M, Huber WD, Schima W, et al. Budd-Chiari syndrome associated with coagulation abnormalities in a child with carbohydrate deficient glycoprotein syndrome type Ix. J Pediatr. 2000;136(5):691-695 (Pubitemid 30318404)
16. Morava E, Wosik H, Kárteszi J, et al. Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. J Inherit Metab Dis. 2008;31(3):450-456
17. Morava E, Wosik HN, Sykut-Cegielska J, et al. Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. Br J Ophthalmol. 2009;93(3):350-354
18. Westphal V, Kjaergaard S, Schollen E, 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(5):599-604
19. Theodore M, Morava E. Congenital disorders of glycosylation: sweet news. Curr Opin Pediatr. 2011;23(6):581-587